Canonical Allele Identifier: CA1217769029

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743590G= , CM000663.2:g.196743590G=	GRCh38
NC_000001.10:g.196712720G= , CM000663.1:g.196712720G=	GRCh37
NC_000001.9:g.194979343G=	NCBI36
NG_007259.1:g.96580G= , LRG_47:g.96580G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4300G=
ENST00000695970.1:c.3098G=	ENSP00000512297.1:p.Cys1033=
ENST00000695971.1:c.3251G=	ENSP00000512298.1:p.Cys1084=
ENST00000695972.1:c.*349G=	ENSP00000512299.1:n.*349G=
ENST00000695973.1:c.*1636G=	ENSP00000512300.1:n.*1636G=
ENST00000695974.1:c.3095G=	ENSP00000512301.1:p.Cys1032=
ENST00000695975.1:c.*1399G=	ENSP00000512302.1:n.*1399G=
ENST00000695976.1:c.3083G=	ENSP00000512303.1:p.Cys1028=
ENST00000695981.1:c.3272G=	ENSP00000512306.1:p.Cys1091=
ENST00000695984.1:c.1280G=	ENSP00000512309.1:p.Cys427=
ENST00000695986.1:c.*2923G=	ENSP00000512311.1:n.*2923G=
ENST00000696026.1:c.*1554G=	ENSP00000512335.1:n.*1554G=
ENST00000696027.1:c.3266G=	ENSP00000512336.1:p.Cys1089=
ENST00000696028.1:c.3200G=	ENSP00000512337.1:p.Cys1067=
ENST00000696029.1:c.3266G=	ENSP00000512338.1:p.Cys1089=
ENST00000696031.1:c.*2790G=	ENSP00000512340.1:n.*2790G=
ENST00000696032.1:c.3272G=	ENSP00000512341.1:p.Cys1091=
ENST00000696033.1:c.1160-36207G=	ENSP00000512342.1:n.1160-36207G=
ENST00000367429.9:c.3272G= MANE Select	ENSP00000356399.4:p.Cys1091=
ENST00000367429.8:c.3272G=	ENSP00000356399.4:p.Cys1091=
ENST00000466229.5:n.6370G=
NM_000186.3:c.3272G= , LRG_47t1:c.3272G=	NP_000177.2:p.Cys1091=
XR_001737134.2:n.3458G=
NM_000186.4:c.3272G= MANE Select	NP_000177.2:p.Cys1091=