Canonical Allele Identifier: CA1148233650

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743563A= , CM000663.2:g.196743563A=	GRCh38
NC_000001.10:g.196712693A= , CM000663.1:g.196712693A=	GRCh37
NC_000001.9:g.194979316A=	NCBI36
NG_007259.1:g.96553A= , LRG_47:g.96553A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4273A=
ENST00000695970.1:c.3071A=	ENSP00000512297.1:p.Glu1024=
ENST00000695971.1:c.3224A=	ENSP00000512298.1:p.Glu1075=
ENST00000695972.1:c.*322A=	ENSP00000512299.1:n.*322A=
ENST00000695973.1:c.*1609A=	ENSP00000512300.1:n.*1609A=
ENST00000695974.1:c.3068A=	ENSP00000512301.1:p.Glu1023=
ENST00000695975.1:c.*1372A=	ENSP00000512302.1:n.*1372A=
ENST00000695976.1:c.3056A=	ENSP00000512303.1:p.Glu1019=
ENST00000695981.1:c.3245A=	ENSP00000512306.1:p.Glu1082=
ENST00000695984.1:c.1253A=	ENSP00000512309.1:p.Glu418=
ENST00000695986.1:c.*2896A=	ENSP00000512311.1:n.*2896A=
ENST00000696026.1:c.*1527A=	ENSP00000512335.1:n.*1527A=
ENST00000696027.1:c.3239A=	ENSP00000512336.1:p.Glu1080=
ENST00000696028.1:c.3173A=	ENSP00000512337.1:p.Glu1058=
ENST00000696029.1:c.3239A=	ENSP00000512338.1:p.Glu1080=
ENST00000696031.1:c.*2763A=	ENSP00000512340.1:n.*2763A=
ENST00000696032.1:c.3245A=	ENSP00000512341.1:p.Glu1082=
ENST00000696033.1:c.1160-36234A=	ENSP00000512342.1:n.1160-36234A=
ENST00000367429.9:c.3245A= MANE Select	ENSP00000356399.4:p.Glu1082=
ENST00000367429.8:c.3245A=	ENSP00000356399.4:p.Glu1082=
ENST00000466229.5:n.6343A=
NM_000186.3:c.3245A= , LRG_47t1:c.3245A=	NP_000177.2:p.Glu1082=
XR_001737134.2:n.3431A=
NM_000186.4:c.3245A= MANE Select	NP_000177.2:p.Glu1082=