Canonical Allele Identifier: CA1141581320

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740712G= , CM000663.2:g.196740712G=	GRCh38
NC_000001.10:g.196709842G= , CM000663.1:g.196709842G=	GRCh37
NC_000001.9:g.194976465G=	NCBI36
NG_007259.1:g.93702G= , LRG_47:g.93702G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.3142G=
ENST00000695970.1:c.2783-1163G=	ENSP00000512297.1:n.2783-1163G=
ENST00000695971.1:c.2855G=	ENSP00000512298.1:p.Cys952=
ENST00000695972.1:c.2281G=	ENSP00000512299.1:p.Val761=
ENST00000695973.1:c.*1240G=	ENSP00000512300.1:n.*1240G=
ENST00000695974.1:c.2699G=	ENSP00000512301.1:p.Cys900=
ENST00000695975.1:c.*1003G=	ENSP00000512302.1:n.*1003G=
ENST00000695976.1:c.2687G=	ENSP00000512303.1:p.Cys896=
ENST00000695981.1:c.2876G=	ENSP00000512306.1:p.Cys959=
ENST00000695983.1:c.2862+14G=	ENSP00000512308.1:n.2862+14G=
ENST00000695984.1:c.884G=	ENSP00000512309.1:p.Cys295=
ENST00000695986.1:c.*2527G=	ENSP00000512311.1:n.*2527G=
ENST00000696025.1:n.2960G=
ENST00000696026.1:c.*1158G=	ENSP00000512335.1:n.*1158G=
ENST00000696027.1:c.2870G=	ENSP00000512336.1:p.Cys957=
ENST00000696028.1:c.2876G=	ENSP00000512337.1:p.Cys959=
ENST00000696029.1:c.2876G=	ENSP00000512338.1:p.Cys959=
ENST00000696031.1:c.*2394G=	ENSP00000512340.1:n.*2394G=
ENST00000696032.1:c.2876G=	ENSP00000512341.1:p.Cys959=
ENST00000696033.1:c.1160-39085G=	ENSP00000512342.1:n.1160-39085G=
ENST00000367429.9:c.2876G= MANE Select	ENSP00000356399.4:p.Cys959=
ENST00000367429.8:c.2876G=	ENSP00000356399.4:p.Cys959=
ENST00000466229.5:n.4892G=
ENST00000470918.1:n.379G=
NM_000186.3:c.2876G= , LRG_47t1:c.2876G=	NP_000177.2:p.Cys959=
XR_001737134.2:n.3062G=
NM_000186.4:c.2876G= MANE Select	NP_000177.2:p.Cys959=