Canonical Allele Identifier: CA1217768975

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743480A= , CM000663.2:g.196743480A=	GRCh38
NC_000001.10:g.196712610A= , CM000663.1:g.196712610A=	GRCh37
NC_000001.9:g.194979233A=	NCBI36
NG_007259.1:g.96470A= , LRG_47:g.96470A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4190A=
ENST00000695970.1:c.2988A=	ENSP00000512297.1:p.Val996=
ENST00000695971.1:c.3141A=	ENSP00000512298.1:p.Val1047=
ENST00000695972.1:c.*239A=	ENSP00000512299.1:n.*239A=
ENST00000695973.1:c.*1526A=	ENSP00000512300.1:n.*1526A=
ENST00000695974.1:c.2985A=	ENSP00000512301.1:p.Val995=
ENST00000695975.1:c.*1289A=	ENSP00000512302.1:n.*1289A=
ENST00000695976.1:c.2973A=	ENSP00000512303.1:p.Val991=
ENST00000695981.1:c.3162A=	ENSP00000512306.1:p.Val1054=
ENST00000695984.1:c.1170A=	ENSP00000512309.1:p.Val390=
ENST00000695986.1:c.*2813A=	ENSP00000512311.1:n.*2813A=
ENST00000696026.1:c.*1444A=	ENSP00000512335.1:n.*1444A=
ENST00000696027.1:c.3156A=	ENSP00000512336.1:p.Val1052=
ENST00000696028.1:c.3090A=	ENSP00000512337.1:p.Val1030=
ENST00000696029.1:c.3156A=	ENSP00000512338.1:p.Val1052=
ENST00000696031.1:c.*2680A=	ENSP00000512340.1:n.*2680A=
ENST00000696032.1:c.3162A=	ENSP00000512341.1:p.Val1054=
ENST00000696033.1:c.1160-36317A=	ENSP00000512342.1:n.1160-36317A=
ENST00000367429.9:c.3162A= MANE Select	ENSP00000356399.4:p.Val1054=
ENST00000367429.8:c.3162A=	ENSP00000356399.4:p.Val1054=
ENST00000466229.5:n.6260A=
NM_000186.3:c.3162A= , LRG_47t1:c.3162A=	NP_000177.2:p.Val1054=
XR_001737134.2:n.3348A=
NM_000186.4:c.3162A= MANE Select	NP_000177.2:p.Val1054=