Human (GRCh38.p14)
Description

complement factor H related 1 [Source:HGNC Symbol;Acc:HGNC:4888]

Gene Synonyms

CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, H36-1, H36-2, HFL1, HFL2

About this transcript

This transcript has 6 exons, is annotated with 34 domains and features, is associated with 5701 variant alleles and maps to 508 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000320493.10CFHR1-2011297330aaENSP00000314299.5
 
Protein coding
CCDS1386Q03591 NM_002113.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000699454.1CFHR1-2061324276aaENSP00000514391.1
 
Protein coding
CCDS91131A0A8V8TNS5 -GENCODE basic
ENST00000367424.4CFHR1-2021070271aaENSP00000356394.3
 
Protein coding
B1AKG0 -GENCODE basicTSL:5
ENST00000699455.1CFHR1-2071029249aaENSP00000514392.1
 
Protein coding
CCDS91132A0A8V8TQ26 -GENCODE basic
ENST00000699456.1CFHR1-2081372No protein-
 
Protein coding CDS not defined
---
ENST00000472961.1CFHR1-204399No protein-
 
Protein coding CDS not defined
--TSL:1
ENST00000480960.1CFHR1-205723No protein-
 
Retained intron
--TSL:2
ENST00000468079.1CFHR1-203588No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 6, Coding exons: 6, Transcript length: 1,297 bps, Translation length: 330 residues

MANE

This MANE Select transcript contains ENSP00000314299 and matches to NM_002113.3 and NP_002104.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q03591

CCDS

This transcript is a member of the Human CCDS set: CCDS1386

Transcript Support Level (TSL)

TSL:1

Version

ENST00000320493.10

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

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