Canonical Allele Identifier: CA1217769019

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743564A= , CM000663.2:g.196743564A=	GRCh38
NC_000001.10:g.196712694A= , CM000663.1:g.196712694A=	GRCh37
NC_000001.9:g.194979317A=	NCBI36
NG_007259.1:g.96554A= , LRG_47:g.96554A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4274A=
ENST00000695970.1:c.3072A=	ENSP00000512297.1:p.Glu1024=
ENST00000695971.1:c.3225A=	ENSP00000512298.1:p.Glu1075=
ENST00000695972.1:c.*323A=	ENSP00000512299.1:n.*323A=
ENST00000695973.1:c.*1610A=	ENSP00000512300.1:n.*1610A=
ENST00000695974.1:c.3069A=	ENSP00000512301.1:p.Glu1023=
ENST00000695975.1:c.*1373A=	ENSP00000512302.1:n.*1373A=
ENST00000695976.1:c.3057A=	ENSP00000512303.1:p.Glu1019=
ENST00000695981.1:c.3246A=	ENSP00000512306.1:p.Glu1082=
ENST00000695984.1:c.1254A=	ENSP00000512309.1:p.Glu418=
ENST00000695986.1:c.*2897A=	ENSP00000512311.1:n.*2897A=
ENST00000696026.1:c.*1528A=	ENSP00000512335.1:n.*1528A=
ENST00000696027.1:c.3240A=	ENSP00000512336.1:p.Glu1080=
ENST00000696028.1:c.3174A=	ENSP00000512337.1:p.Glu1058=
ENST00000696029.1:c.3240A=	ENSP00000512338.1:p.Glu1080=
ENST00000696031.1:c.*2764A=	ENSP00000512340.1:n.*2764A=
ENST00000696032.1:c.3246A=	ENSP00000512341.1:p.Glu1082=
ENST00000696033.1:c.1160-36233A=	ENSP00000512342.1:n.1160-36233A=
ENST00000367429.9:c.3246A= MANE Select	ENSP00000356399.4:p.Glu1082=
ENST00000367429.8:c.3246A=	ENSP00000356399.4:p.Glu1082=
ENST00000466229.5:n.6344A=
NM_000186.3:c.3246A= , LRG_47t1:c.3246A=	NP_000177.2:p.Glu1082=
XR_001737134.2:n.3432A=
NM_000186.4:c.3246A= MANE Select	NP_000177.2:p.Glu1082=