Human (GRCh38.p14)
Description

hephaestin [Source:HGNC Symbol;Acc:HGNC:4866]

Gene Synonyms

CPL, KIAA0698

Location
About this transcript

This transcript has 21 exons, is annotated with 27 domains and features, is associated with 43032 variant alleles and maps to 632 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000343002.7HEPH-20244311158aaENSP00000343939.2
 
Protein coding
CCDS14384Q9BQS7-1 NM_001367233.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P5TSL:1
ENST00000519389.6HEPH-20958911158aaENSP00000430620.2
 
Protein coding
CCDS14384Q9BQS7-1 -GENCODE basicAPPRIS P5TSL:1
ENST00000441993.7HEPH-20643101157aaENSP00000411687.3
 
Protein coding
CCDS48133Q9BQS7-2 -GENCODE basicAPPRIS ALT1TSL:1
ENST00000336279.9HEPH-2014228891aaENSP00000337418.5
 
Protein coding
CCDS14385Q9BQS7-4 -GENCODE basicTSL:1
ENST00000425114.2HEPH-20440671087aaENSP00000398078.2
 
Protein coding
CCDS94623Q5JZ08 -GENCODE basicTSL:5
ENST00000419594.6HEPH-2033694966aaENSP00000413211.2
 
Protein coding
CCDS65277E7ES21 -GENCODE basicTSL:1
ENST00000684603.1HEPH-2162919910aaENSP00000507800.1
 
Protein coding
A0A804HK72 -CDS 5' incomplete
ENST00000682927.1HEPH-2116751658aaENSP00000507905.1
 
Nonsense mediated decay
A0A804HKF4 --
ENST00000683049.1HEPH-2125829967aaENSP00000507032.1
 
Nonsense mediated decay
A0A804HIE6 --
ENST00000682362.1HEPH-2104976497aaENSP00000507411.1
 
Nonsense mediated decay
A0A804HJ98 --
ENST00000684042.1HEPH-214462760aaENSP00000507110.1
 
Nonsense mediated decay
F8WBZ8 --
ENST00000458621.6HEPH-2074546868aaENSP00000396907.2
 
Nonsense mediated decay
Q5JZ07 -TSL:2
ENST00000684625.1HEPH-2173654284aaENSP00000507338.1
 
Nonsense mediated decay
A0A804HJ33 -CDS 5' incomplete
ENST00000429547.6HEPH-20556960aaENSP00000392319.2
 
Nonsense mediated decay
F8WBZ8 -TSL:4
ENST00000683420.1HEPH-2133640No protein-
 
Protein coding CDS not defined
---
ENST00000684071.1HEPH-2154854No protein-
 
Retained intron
---
ENST00000471121.1HEPH-208802No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 21, Coding exons: 20, Transcript length: 4,431 bps, Translation length: 1,158 residues

MANE

This MANE Select transcript contains ENSP00000343939 and matches to NM_001367233.3 and NP_001354162.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9BQS7

CCDS

This transcript is a member of the Human CCDS set: CCDS14384

Transcript Support Level (TSL)

TSL:1

Version

ENST00000343002.7

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.