Canonical Allele Identifier: CA1217769035

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743606G= , CM000663.2:g.196743606G=	GRCh38
NC_000001.10:g.196712736G= , CM000663.1:g.196712736G=	GRCh37
NC_000001.9:g.194979359G=	NCBI36
NG_007259.1:g.96596G= , LRG_47:g.96596G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4316G=
ENST00000695970.1:c.3114G=	ENSP00000512297.1:p.Trp1038=
ENST00000695971.1:c.3267G=	ENSP00000512298.1:p.Trp1089=
ENST00000695972.1:c.*365G=	ENSP00000512299.1:n.*365G=
ENST00000695973.1:c.*1652G=	ENSP00000512300.1:n.*1652G=
ENST00000695974.1:c.3111G=	ENSP00000512301.1:p.Trp1037=
ENST00000695975.1:c.*1415G=	ENSP00000512302.1:n.*1415G=
ENST00000695976.1:c.3099G=	ENSP00000512303.1:p.Trp1033=
ENST00000695981.1:c.3288G=	ENSP00000512306.1:p.Trp1096=
ENST00000695984.1:c.1296G=	ENSP00000512309.1:p.Trp432=
ENST00000695986.1:c.*2939G=	ENSP00000512311.1:n.*2939G=
ENST00000696026.1:c.*1570G=	ENSP00000512335.1:n.*1570G=
ENST00000696027.1:c.3282G=	ENSP00000512336.1:p.Trp1094=
ENST00000696028.1:c.3216G=	ENSP00000512337.1:p.Trp1072=
ENST00000696029.1:c.3282G=	ENSP00000512338.1:p.Trp1094=
ENST00000696031.1:c.*2806G=	ENSP00000512340.1:n.*2806G=
ENST00000696032.1:c.3288G=	ENSP00000512341.1:p.Trp1096=
ENST00000696033.1:c.1160-36191G=	ENSP00000512342.1:n.1160-36191G=
ENST00000367429.9:c.3288G= MANE Select	ENSP00000356399.4:p.Trp1096=
ENST00000367429.8:c.3288G=	ENSP00000356399.4:p.Trp1096=
ENST00000466229.5:n.6386G=
NM_000186.3:c.3288G= , LRG_47t1:c.3288G=	NP_000177.2:p.Trp1096=
XR_001737134.2:n.3474G=
NM_000186.4:c.3288G= MANE Select	NP_000177.2:p.Trp1096=