Canonical Allele Identifier: CA1217751321

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196704864C= , CM000663.2:g.196704864C=	GRCh38
NC_000001.10:g.196673994C= , CM000663.1:g.196673994C=	GRCh37
NC_000001.9:g.194940617C=	NCBI36
NG_007259.1:g.57854C= , LRG_47:g.57854C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.1603-8871C=
ENST00000695969.1:c.1337-8871C=	ENSP00000512296.1:n.1337-8871C=
ENST00000695970.1:c.1337-8871C=	ENSP00000512297.1:n.1337-8871C=
ENST00000695971.1:c.1316-8871C=	ENSP00000512298.1:n.1316-8871C=
ENST00000695972.1:c.1337-8871C=	ENSP00000512299.1:n.1337-8871C=
ENST00000695973.1:c.1337-8871C=	ENSP00000512300.1:n.1337-8871C=
ENST00000695974.1:c.1337-8871C=	ENSP00000512301.1:n.1337-8871C=
ENST00000695975.1:c.1337-8871C=	ENSP00000512302.1:n.1337-8871C=
ENST00000695976.1:c.1148-8871C=	ENSP00000512303.1:n.1148-8871C=
ENST00000695980.1:n.1457-1114C=
ENST00000695981.1:c.1337-8871C=	ENSP00000512306.1:n.1337-8871C=
ENST00000695983.1:c.1337-8871C=	ENSP00000512308.1:n.1337-8871C=
ENST00000695984.1:c.245-23482C=	ENSP00000512309.1:n.245-23482C=
ENST00000695986.1:c.*988-8871C=	ENSP00000512311.1:n.*988-8871C=
ENST00000696024.1:n.1421-8871C=
ENST00000696025.1:n.1421-8871C=
ENST00000696026.1:c.1337-8871C=	ENSP00000512335.1:n.1337-8871C=
ENST00000696027.1:c.1337-8871C=	ENSP00000512336.1:n.1337-8871C=
ENST00000696028.1:c.1337-8871C=	ENSP00000512337.1:n.1337-8871C=
ENST00000696029.1:c.1337-8871C=	ENSP00000512338.1:n.1337-8871C=
ENST00000696031.1:c.*855-8871C=	ENSP00000512340.1:n.*855-8871C=
ENST00000696032.1:c.1337-8871C=	ENSP00000512341.1:n.1337-8871C=
ENST00000696033.1:c.1159+15250C=	ENSP00000512342.1:n.1159+15250C=
ENST00000367429.9:c.1337-8871C= MANE Select	ENSP00000356399.4:n.1337-8871C=
ENST00000367429.8:c.1337-8871C=	ENSP00000356399.4:n.1337-8871C=
ENST00000466229.5:n.3353-8871C=
NM_000186.3:c.1337-8871C= , LRG_47t1:c.1337-8871C=	NP_000177.2:n.1337-8871C=
XR_001737134.2:n.1422-8871C=
NM_000186.4:c.1337-8871C= MANE Select	NP_000177.2:n.1337-8871C=