Canonical Allele Identifier: CA1140762922

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743525T= , CM000663.2:g.196743525T=	GRCh38
NC_000001.10:g.196712655T= , CM000663.1:g.196712655T=	GRCh37
NC_000001.9:g.194979278T=	NCBI36
NG_007259.1:g.96515T= , LRG_47:g.96515T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4235T=
ENST00000695970.1:c.3033T=	ENSP00000512297.1:p.Ser1011=
ENST00000695971.1:c.3186T=	ENSP00000512298.1:p.Ser1062=
ENST00000695972.1:c.*284T=	ENSP00000512299.1:n.*284T=
ENST00000695973.1:c.*1571T=	ENSP00000512300.1:n.*1571T=
ENST00000695974.1:c.3030T=	ENSP00000512301.1:p.Ser1010=
ENST00000695975.1:c.*1334T=	ENSP00000512302.1:n.*1334T=
ENST00000695976.1:c.3018T=	ENSP00000512303.1:p.Ser1006=
ENST00000695981.1:c.3207T=	ENSP00000512306.1:p.Ser1069=
ENST00000695984.1:c.1215T=	ENSP00000512309.1:p.Ser405=
ENST00000695986.1:c.*2858T=	ENSP00000512311.1:n.*2858T=
ENST00000696026.1:c.*1489T=	ENSP00000512335.1:n.*1489T=
ENST00000696027.1:c.3201T=	ENSP00000512336.1:p.Ser1067=
ENST00000696028.1:c.3135T=	ENSP00000512337.1:p.Ser1045=
ENST00000696029.1:c.3201T=	ENSP00000512338.1:p.Ser1067=
ENST00000696031.1:c.*2725T=	ENSP00000512340.1:n.*2725T=
ENST00000696032.1:c.3207T=	ENSP00000512341.1:p.Ser1069=
ENST00000696033.1:c.1160-36272T=	ENSP00000512342.1:n.1160-36272T=
ENST00000367429.9:c.3207T= MANE Select	ENSP00000356399.4:p.Ser1069=
ENST00000367429.8:c.3207T=	ENSP00000356399.4:p.Ser1069=
ENST00000466229.5:n.6305T=
NM_000186.3:c.3207T= , LRG_47t1:c.3207T=	NP_000177.2:p.Ser1069=
XR_001737134.2:n.3393T=
NM_000186.4:c.3207T= MANE Select	NP_000177.2:p.Ser1069=