Human (GRCh37.p13)
Description

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

Gene Synonyms

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

Location

Chromosome 1: 196,788,887-196,801,319 forward strand.

GRCh37:CM000663.1

About this gene

This gene has 5 transcripts (splice variants), 6 paralogues and is associated with 3 phenotypes.

Show/hide columns (1 hidden)
  • Transcript ID
  • Name
  • bp
  • Protein
  • Translation ID
  • Biotype
  • CCDS
  • UniProt Match
  • RefSeq
  • Flags
Transcript IDNamebpProteinBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000320493.5CFHR1-0011271330aa
 
Protein coding
CCDS1386Q03591 Q6LBM9 NM_002113.2Ensembl CanonicalGENCODE Basic
ENST00000367424.4CFHR1-0021070271aa
 
Protein coding
B1AKG0 Q6LBM9 -GENCODE Basic
ENST00000472961.1CFHR1-003399No protein
 
Processed transcript
---
ENST00000480960.1CFHR1-005723No protein
 
Retained intron
---
ENST00000468079.1CFHR1-006588No protein
 
Retained intron
---
Name

CFHR1 (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: Q03591

CCDS

This gene is a member of the Human CCDS set: CCDS1386.1

LRG

LRG_149 provides a stable genomic reference framework for describing sequence variants for this gene

Ensembl version

ENSG00000244414.2

Other assemblies

This gene maps to 196,819,757-196,832,189 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:
OTTHUMG00000036276 (version 4)

Basic Gene Annotations from GENCODE 19

The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).

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Basic Gene Annotations from GENCODE 19

The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).

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Contigs

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