Canonical Allele Identifier: CA10747845
Gene: CFH HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs379489

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196724321A>G , CM000663.2:g.196724321A>G GRCh38
NC_000001.10:g.196693451A>G , CM000663.1:g.196693451A>G GRCh37
NC_000001.9:g.194960074A>G NCBI36
NG_007259.1:g.77311A>G , LRG_47:g.77311A>G

Transcript Alleles

HGVS Amino-acid change
NM_000186.3:c.1697-800A>G , LRG_47t1:c.1697-800A>G NP_000177.2:p.=
XR_001737134.2:n.1883-800A>G
ENST00000367429.8:c.1697-800A>G ENSP00000356399.4:p.=
ENST00000466229.5:n.3713-800A>G