Canonical Allele Identifier: CA343989108
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747270G>T , CM000663.2:g.196747270G>T GRCh38
NC_000001.10:g.196716400G>T , CM000663.1:g.196716400G>T GRCh37
NC_000001.9:g.194983023G>T NCBI36
NG_007259.1:g.100260G>T , LRG_47:g.100260G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.3653G>T MANE Select ENSP00000356399.4:p.Cys1218Phe
ENST00000367429.8:c.3653G>T ENSP00000356399.4:p.Cys1218Phe
ENST00000466229.5:n.6751G>T
NM_000186.3:c.3653G>T , LRG_47t1:c.3653G>T NP_000177.2:p.Cys1218Phe
XR_001737134.2:n.3839G>T
NM_000186.4:c.3653G>T MANE Select NP_000177.2:p.Cys1218Phe