Canonical Allele Identifier: CA343989096
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747269T>A , CM000663.2:g.196747269T>A GRCh38
NC_000001.10:g.196716399T>A , CM000663.1:g.196716399T>A GRCh37
NC_000001.9:g.194983022T>A NCBI36
NG_007259.1:g.100259T>A , LRG_47:g.100259T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.3652T>A MANE Select ENSP00000356399.4:p.Cys1218Ser
ENST00000367429.8:c.3652T>A ENSP00000356399.4:p.Cys1218Ser
ENST00000466229.5:n.6750T>A
NM_000186.3:c.3652T>A , LRG_47t1:c.3652T>A NP_000177.2:p.Cys1218Ser
XR_001737134.2:n.3838T>A
NM_000186.4:c.3652T>A MANE Select NP_000177.2:p.Cys1218Ser