Canonical Allele Identifier: CA1217769004

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743538C= , CM000663.2:g.196743538C=	GRCh38
NC_000001.10:g.196712668C= , CM000663.1:g.196712668C=	GRCh37
NC_000001.9:g.194979291C=	NCBI36
NG_007259.1:g.96528C= , LRG_47:g.96528C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4248C=
ENST00000695970.1:c.3046C=	ENSP00000512297.1:p.Arg1016=
ENST00000695971.1:c.3199C=	ENSP00000512298.1:p.Arg1067=
ENST00000695972.1:c.*297C=	ENSP00000512299.1:n.*297C=
ENST00000695973.1:c.*1584C=	ENSP00000512300.1:n.*1584C=
ENST00000695974.1:c.3043C=	ENSP00000512301.1:p.Arg1015=
ENST00000695975.1:c.*1347C=	ENSP00000512302.1:n.*1347C=
ENST00000695976.1:c.3031C=	ENSP00000512303.1:p.Arg1011=
ENST00000695981.1:c.3220C=	ENSP00000512306.1:p.Arg1074=
ENST00000695984.1:c.1228C=	ENSP00000512309.1:p.Arg410=
ENST00000695986.1:c.*2871C=	ENSP00000512311.1:n.*2871C=
ENST00000696026.1:c.*1502C=	ENSP00000512335.1:n.*1502C=
ENST00000696027.1:c.3214C=	ENSP00000512336.1:p.Arg1072=
ENST00000696028.1:c.3148C=	ENSP00000512337.1:p.Arg1050=
ENST00000696029.1:c.3214C=	ENSP00000512338.1:p.Arg1072=
ENST00000696031.1:c.*2738C=	ENSP00000512340.1:n.*2738C=
ENST00000696032.1:c.3220C=	ENSP00000512341.1:p.Arg1074=
ENST00000696033.1:c.1160-36259C=	ENSP00000512342.1:n.1160-36259C=
ENST00000367429.9:c.3220C= MANE Select	ENSP00000356399.4:p.Arg1074=
ENST00000367429.8:c.3220C=	ENSP00000356399.4:p.Arg1074=
ENST00000466229.5:n.6318C=
NM_000186.3:c.3220C= , LRG_47t1:c.3220C=	NP_000177.2:p.Arg1074=
XR_001737134.2:n.3406C=
NM_000186.4:c.3220C= MANE Select	NP_000177.2:p.Arg1074=