Canonical Allele Identifier: CA10821105
Gene: CFH HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs572515

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196677131A>G , CM000663.2:g.196677131A>G GRCh38
NC_000001.10:g.196646261A>G , CM000663.1:g.196646261A>G GRCh37
NC_000001.9:g.194912884A>G NCBI36
NG_007259.1:g.30121A>G , LRG_47:g.30121A>G

Transcript Alleles

HGVS Amino-acid change
NM_000186.3:c.428-345A>G , LRG_47t1:c.428-345A>G NP_000177.2:p.=
NM_001014975.2:c.428-345A>G VV NP_001014975.1:p.=
XM_017001108.2:c.428-345A>G XP_016856597.1:p.=
XR_001737134.2:n.513-345A>G
ENST00000359637.2:c.427+1066A>G ENSP00000352658.2:p.=
ENST00000367429.8:c.428-345A>G ENSP00000356399.4:p.=
ENST00000466229.5:n.144A>G
ENST00000630130.2:c.428-345A>G ENSP00000487250.1:p.=