Canonical Allele Identifier: CA1217764447
Gene: CFH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196733464G= , CM000663.2:g.196733464G= GRCh38
NC_000001.10:g.196702594G= , CM000663.1:g.196702594G= GRCh37
NC_000001.9:g.194969217G= NCBI36
NG_007259.1:g.86454G= , LRG_47:g.86454G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470918.2:n.2680-3360G=
ENST00000695969.1:c.2414-3360G= ENSP00000512296.1:n.2414-3360G=
ENST00000695970.1:c.2414-3360G= ENSP00000512297.1:n.2414-3360G=
ENST00000695971.1:c.2393-3360G= ENSP00000512298.1:n.2393-3360G=
ENST00000695972.1:c.2232+6528G= ENSP00000512299.1:n.2232+6528G=
ENST00000695973.1:c.*778-3360G= ENSP00000512300.1:n.*778-3360G=
ENST00000695974.1:c.2237-3360G= ENSP00000512301.1:n.2237-3360G=
ENST00000695975.1:c.*541-3360G= ENSP00000512302.1:n.*541-3360G=
ENST00000695976.1:c.2225-3360G= ENSP00000512303.1:n.2225-3360G=
ENST00000695981.1:c.2414-3360G= ENSP00000512306.1:n.2414-3360G=
ENST00000695983.1:c.2414-3360G= ENSP00000512308.1:n.2414-3360G=
ENST00000695984.1:c.422-3360G= ENSP00000512309.1:n.422-3360G=
ENST00000695986.1:c.*2065-3360G= ENSP00000512311.1:n.*2065-3360G=
ENST00000696025.1:n.2498-3360G=
ENST00000696026.1:c.*696-3360G= ENSP00000512335.1:n.*696-3360G=
ENST00000696027.1:c.2408-3360G= ENSP00000512336.1:n.2408-3360G=
ENST00000696028.1:c.2414-3360G= ENSP00000512337.1:n.2414-3360G=
ENST00000696029.1:c.2414-3360G= ENSP00000512338.1:n.2414-3360G=
ENST00000696031.1:c.*1932-3360G= ENSP00000512340.1:n.*1932-3360G=
ENST00000696032.1:c.2414-3360G= ENSP00000512341.1:n.2414-3360G=
ENST00000696033.1:c.1159+43850G= ENSP00000512342.1:n.1159+43850G=
ENST00000367429.9:c.2414-3360G= MANE Select ENSP00000356399.4:n.2414-3360G=
ENST00000367429.8:c.2414-3360G= ENSP00000356399.4:n.2414-3360G=
ENST00000466229.5:n.4430-3360G=
NM_000186.3:c.2414-3360G= , LRG_47t1:c.2414-3360G= NP_000177.2:n.2414-3360G=
XR_001737134.2:n.2600-3360G=
NM_000186.4:c.2414-3360G= MANE Select NP_000177.2:n.2414-3360G=