Canonical Allele Identifier: CA10747843
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs393955

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196723340C>A , CM000663.2:g.196723340C>A GRCh38
NC_000001.10:g.196692470C>A , CM000663.1:g.196692470C>A GRCh37
NC_000001.9:g.194959093C>A NCBI36
NG_007259.1:g.76330C>A , LRG_47:g.76330C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.1697-1781C>A MANE Select ENSP00000356399.4:p.=
ENST00000367429.8:c.1697-1781C>A ENSP00000356399.4:p.=
ENST00000466229.5:n.3713-1781C>A
NM_000186.3:c.1697-1781C>A , LRG_47t1:c.1697-1781C>A NP_000177.2:p.=
XR_001737134.2:n.1883-1781C>A
NM_000186.4:c.1697-1781C>A MANE Select NP_000177.2:p.=