complement factor H-related 1 [Source:HGNC Symbol;Acc:4888]
CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, H36-1, H36-2, HFL1, HFL2
Chromosome 1: 196,788,911-196,801,319 forward strand.
This transcript has 5 exons, is annotated with 22 domains and features, is associated with 5689 variant alleles and maps to 425 oligo probes.
This transcript is a product of gene ENSG00000244414.2 Show transcript tableHide transcript table
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 | - | - | - |