Canonical Allele Identifier: CA1217769027

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743582A= , CM000663.2:g.196743582A=	GRCh38
NC_000001.10:g.196712712A= , CM000663.1:g.196712712A=	GRCh37
NC_000001.9:g.194979335A=	NCBI36
NG_007259.1:g.96572A= , LRG_47:g.96572A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4292A=
ENST00000695970.1:c.3090A=	ENSP00000512297.1:p.Glu1030=
ENST00000695971.1:c.3243A=	ENSP00000512298.1:p.Glu1081=
ENST00000695972.1:c.*341A=	ENSP00000512299.1:n.*341A=
ENST00000695973.1:c.*1628A=	ENSP00000512300.1:n.*1628A=
ENST00000695974.1:c.3087A=	ENSP00000512301.1:p.Glu1029=
ENST00000695975.1:c.*1391A=	ENSP00000512302.1:n.*1391A=
ENST00000695976.1:c.3075A=	ENSP00000512303.1:p.Glu1025=
ENST00000695981.1:c.3264A=	ENSP00000512306.1:p.Glu1088=
ENST00000695984.1:c.1272A=	ENSP00000512309.1:p.Glu424=
ENST00000695986.1:c.*2915A=	ENSP00000512311.1:n.*2915A=
ENST00000696026.1:c.*1546A=	ENSP00000512335.1:n.*1546A=
ENST00000696027.1:c.3258A=	ENSP00000512336.1:p.Glu1086=
ENST00000696028.1:c.3192A=	ENSP00000512337.1:p.Glu1064=
ENST00000696029.1:c.3258A=	ENSP00000512338.1:p.Glu1086=
ENST00000696031.1:c.*2782A=	ENSP00000512340.1:n.*2782A=
ENST00000696032.1:c.3264A=	ENSP00000512341.1:p.Glu1088=
ENST00000696033.1:c.1160-36215A=	ENSP00000512342.1:n.1160-36215A=
ENST00000367429.9:c.3264A= MANE Select	ENSP00000356399.4:p.Glu1088=
ENST00000367429.8:c.3264A=	ENSP00000356399.4:p.Glu1088=
ENST00000466229.5:n.6362A=
NM_000186.3:c.3264A= , LRG_47t1:c.3264A=	NP_000177.2:p.Glu1088=
XR_001737134.2:n.3450A=
NM_000186.4:c.3264A= MANE Select	NP_000177.2:p.Glu1088=