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.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000320493.5 | CFHR1-001 | 1271 | 330aa | ENSP00000314299.5 | Protein coding | CCDS1386 | Q03591 Q6LBM9 | NM_002113.2 | GENCODE basic, |
ENST00000367424.4 | CFHR1-002 | 1070 | 271aa | ENSP00000356394.3 | Protein coding | B1AKG0 Q6LBM9 | - | GENCODE basic, | |
ENST00000472961.1 | CFHR1-003 | 399 | No protein | - | Processed transcript | - | - | - | |
ENST00000480960.1 | CFHR1-005 | 723 | No protein | - | Retained intron | - | - | - | |
ENST00000468079.1 | CFHR1-006 | 588 | No protein | - | Retained intron | - | - | - |