Canonical Allele Identifier: CA343989100
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.3652T>C MANE Select ENSP00000356399.4:p.Cys1218Arg
ENST00000367429.8:c.3652T>C ENSP00000356399.4:p.Cys1218Arg
ENST00000466229.5:n.6750T>C
NM_000186.3:c.3652T>C , LRG_47t1:c.3652T>C NP_000177.2:p.Cys1218Arg
XR_001737134.2:n.3838T>C
NM_000186.4:c.3652T>C MANE Select NP_000177.2:p.Cys1218Arg