Canonical Allele Identifier: CA1217769017

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743562G= , CM000663.2:g.196743562G=	GRCh38
NC_000001.10:g.196712692G= , CM000663.1:g.196712692G=	GRCh37
NC_000001.9:g.194979315G=	NCBI36
NG_007259.1:g.96552G= , LRG_47:g.96552G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4272G=
ENST00000695970.1:c.3070G=	ENSP00000512297.1:p.Glu1024=
ENST00000695971.1:c.3223G=	ENSP00000512298.1:p.Glu1075=
ENST00000695972.1:c.*321G=	ENSP00000512299.1:n.*321G=
ENST00000695973.1:c.*1608G=	ENSP00000512300.1:n.*1608G=
ENST00000695974.1:c.3067G=	ENSP00000512301.1:p.Glu1023=
ENST00000695975.1:c.*1371G=	ENSP00000512302.1:n.*1371G=
ENST00000695976.1:c.3055G=	ENSP00000512303.1:p.Glu1019=
ENST00000695981.1:c.3244G=	ENSP00000512306.1:p.Glu1082=
ENST00000695984.1:c.1252G=	ENSP00000512309.1:p.Glu418=
ENST00000695986.1:c.*2895G=	ENSP00000512311.1:n.*2895G=
ENST00000696026.1:c.*1526G=	ENSP00000512335.1:n.*1526G=
ENST00000696027.1:c.3238G=	ENSP00000512336.1:p.Glu1080=
ENST00000696028.1:c.3172G=	ENSP00000512337.1:p.Glu1058=
ENST00000696029.1:c.3238G=	ENSP00000512338.1:p.Glu1080=
ENST00000696031.1:c.*2762G=	ENSP00000512340.1:n.*2762G=
ENST00000696032.1:c.3244G=	ENSP00000512341.1:p.Glu1082=
ENST00000696033.1:c.1160-36235G=	ENSP00000512342.1:n.1160-36235G=
ENST00000367429.9:c.3244G= MANE Select	ENSP00000356399.4:p.Glu1082=
ENST00000367429.8:c.3244G=	ENSP00000356399.4:p.Glu1082=
ENST00000466229.5:n.6342G=
NM_000186.3:c.3244G= , LRG_47t1:c.3244G=	NP_000177.2:p.Glu1082=
XR_001737134.2:n.3430G=
NM_000186.4:c.3244G= MANE Select	NP_000177.2:p.Glu1082=