Canonical Allele Identifier: CA1140621647

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743496G= , CM000663.2:g.196743496G=	GRCh38
NC_000001.10:g.196712626G= , CM000663.1:g.196712626G=	GRCh37
NC_000001.9:g.194979249G=	NCBI36
NG_007259.1:g.96486G= , LRG_47:g.96486G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4206G=
ENST00000695970.1:c.3004G=	ENSP00000512297.1:p.Val1002=
ENST00000695971.1:c.3157G=	ENSP00000512298.1:p.Val1053=
ENST00000695972.1:c.*255G=	ENSP00000512299.1:n.*255G=
ENST00000695973.1:c.*1542G=	ENSP00000512300.1:n.*1542G=
ENST00000695974.1:c.3001G=	ENSP00000512301.1:p.Val1001=
ENST00000695975.1:c.*1305G=	ENSP00000512302.1:n.*1305G=
ENST00000695976.1:c.2989G=	ENSP00000512303.1:p.Val997=
ENST00000695981.1:c.3178G=	ENSP00000512306.1:p.Val1060=
ENST00000695984.1:c.1186G=	ENSP00000512309.1:p.Val396=
ENST00000695986.1:c.*2829G=	ENSP00000512311.1:n.*2829G=
ENST00000696026.1:c.*1460G=	ENSP00000512335.1:n.*1460G=
ENST00000696027.1:c.3172G=	ENSP00000512336.1:p.Val1058=
ENST00000696028.1:c.3106G=	ENSP00000512337.1:p.Val1036=
ENST00000696029.1:c.3172G=	ENSP00000512338.1:p.Val1058=
ENST00000696031.1:c.*2696G=	ENSP00000512340.1:n.*2696G=
ENST00000696032.1:c.3178G=	ENSP00000512341.1:p.Val1060=
ENST00000696033.1:c.1160-36301G=	ENSP00000512342.1:n.1160-36301G=
ENST00000367429.9:c.3178G= MANE Select	ENSP00000356399.4:p.Val1060=
ENST00000367429.8:c.3178G=	ENSP00000356399.4:p.Val1060=
ENST00000466229.5:n.6276G=
NM_000186.3:c.3178G= , LRG_47t1:c.3178G=	NP_000177.2:p.Val1060=
XR_001737134.2:n.3364G=
NM_000186.4:c.3178G= MANE Select	NP_000177.2:p.Val1060=