Canonical Allele Identifier: CA10747845
Gene: CFH HGNC NCBI

Linked Data

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
ENST00000470918.2:n.1963-800A>G
ENST00000695969.1:c.1697-800A>G ENSP00000512296.1:n.1697-800A>G
ENST00000695970.1:c.1697-800A>G ENSP00000512297.1:n.1697-800A>G
ENST00000695971.1:c.1676-800A>G ENSP00000512298.1:n.1676-800A>G
ENST00000695972.1:c.1697-800A>G ENSP00000512299.1:n.1697-800A>G
ENST00000695973.1:c.*61-800A>G ENSP00000512300.1:n.*61-800A>G
ENST00000695974.1:c.1697-2149A>G ENSP00000512301.1:n.1697-2149A>G
ENST00000695975.1:c.1697-800A>G ENSP00000512302.1:n.1697-800A>G
ENST00000695976.1:c.1508-800A>G ENSP00000512303.1:n.1508-800A>G
ENST00000695981.1:c.1697-800A>G ENSP00000512306.1:n.1697-800A>G
ENST00000695983.1:c.1697-800A>G ENSP00000512308.1:n.1697-800A>G
ENST00000695984.1:c.245-4025A>G ENSP00000512309.1:n.245-4025A>G
ENST00000695986.1:c.*1348-800A>G ENSP00000512311.1:n.*1348-800A>G
ENST00000696025.1:n.1781-800A>G
ENST00000696026.1:c.1701-806A>G ENSP00000512335.1:n.1701-806A>G
ENST00000696027.1:c.1697-800A>G ENSP00000512336.1:n.1697-800A>G
ENST00000696028.1:c.1697-800A>G ENSP00000512337.1:n.1697-800A>G
ENST00000696029.1:c.1697-800A>G ENSP00000512338.1:n.1697-800A>G
ENST00000696031.1:c.*1215-800A>G ENSP00000512340.1:n.*1215-800A>G
ENST00000696032.1:c.1697-800A>G ENSP00000512341.1:n.1697-800A>G
ENST00000696033.1:c.1159+34707A>G ENSP00000512342.1:n.1159+34707A>G
ENST00000367429.9:c.1697-800A>G MANE Select ENSP00000356399.4:n.1697-800A>G
ENST00000367429.8:c.1697-800A>G ENSP00000356399.4:n.1697-800A>G
ENST00000466229.5:n.3713-800A>G
NM_000186.3:c.1697-800A>G , LRG_47t1:c.1697-800A>G NP_000177.2:n.1697-800A>G
XR_001737134.2:n.1883-800A>G
NM_000186.4:c.1697-800A>G MANE Select NP_000177.2:n.1697-800A>G