Canonical Allele Identifier: CA1140643296

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743583G= , CM000663.2:g.196743583G=	GRCh38
NC_000001.10:g.196712713G= , CM000663.1:g.196712713G=	GRCh37
NC_000001.9:g.194979336G=	NCBI36
NG_007259.1:g.96573G= , LRG_47:g.96573G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4293G=
ENST00000695970.1:c.3091G=	ENSP00000512297.1:p.Val1031=
ENST00000695971.1:c.3244G=	ENSP00000512298.1:p.Val1082=
ENST00000695972.1:c.*342G=	ENSP00000512299.1:n.*342G=
ENST00000695973.1:c.*1629G=	ENSP00000512300.1:n.*1629G=
ENST00000695974.1:c.3088G=	ENSP00000512301.1:p.Val1030=
ENST00000695975.1:c.*1392G=	ENSP00000512302.1:n.*1392G=
ENST00000695976.1:c.3076G=	ENSP00000512303.1:p.Val1026=
ENST00000695981.1:c.3265G=	ENSP00000512306.1:p.Val1089=
ENST00000695984.1:c.1273G=	ENSP00000512309.1:p.Val425=
ENST00000695986.1:c.*2916G=	ENSP00000512311.1:n.*2916G=
ENST00000696026.1:c.*1547G=	ENSP00000512335.1:n.*1547G=
ENST00000696027.1:c.3259G=	ENSP00000512336.1:p.Val1087=
ENST00000696028.1:c.3193G=	ENSP00000512337.1:p.Val1065=
ENST00000696029.1:c.3259G=	ENSP00000512338.1:p.Val1087=
ENST00000696031.1:c.*2783G=	ENSP00000512340.1:n.*2783G=
ENST00000696032.1:c.3265G=	ENSP00000512341.1:p.Val1089=
ENST00000696033.1:c.1160-36214G=	ENSP00000512342.1:n.1160-36214G=
ENST00000367429.9:c.3265G= MANE Select	ENSP00000356399.4:p.Val1089=
ENST00000367429.8:c.3265G=	ENSP00000356399.4:p.Val1089=
ENST00000466229.5:n.6363G=
NM_000186.3:c.3265G= , LRG_47t1:c.3265G=	NP_000177.2:p.Val1089=
XR_001737134.2:n.3451G=
NM_000186.4:c.3265G= MANE Select	NP_000177.2:p.Val1089=