Canonical Allele Identifier: CA341616
Gene: CFH HGNC NCBI

Linked Data

ClinVar Variation Id: 21090
ClinVar RCV Id: RCV000020180
dbSNP Id: rs460184

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747207T>C , CM000663.2:g.196747207T>C GRCh38
NC_000001.10:g.196716337T>C , CM000663.1:g.196716337T>C GRCh37
NC_000001.9:g.194982960T>C NCBI36
NG_007259.1:g.100197T>C , LRG_47:g.100197T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.3590T>C MANE Select ENSP00000356399.4:p.Val1197Ala
ENST00000367429.8:c.3590T>C ENSP00000356399.4:p.Val1197Ala
ENST00000466229.5:n.6688T>C
NM_000186.3:c.3590T>C , LRG_47t1:c.3590T>C NP_000177.2:p.Val1197Ala
XR_001737134.2:n.3776T>C
NM_000186.4:c.3590T>C MANE Select NP_000177.2:p.Val1197Ala