Canonical Allele Identifier: CA1217770754

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747163G= , CM000663.2:g.196747163G=	GRCh38
NC_000001.10:g.196716293G= , CM000663.1:g.196716293G=	GRCh37
NC_000001.9:g.194982916G=	NCBI36
NG_007259.1:g.100153G= , LRG_47:g.100153G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4574G=
ENST00000695970.1:c.3372G=	ENSP00000512297.1:p.Arg1124=
ENST00000695971.1:c.3525G=	ENSP00000512298.1:p.Arg1175=
ENST00000695972.1:c.*623G=	ENSP00000512299.1:n.*623G=
ENST00000695973.1:c.*1910G=	ENSP00000512300.1:n.*1910G=
ENST00000695974.1:c.3369G=	ENSP00000512301.1:p.Arg1123=
ENST00000695975.1:c.*1673G=	ENSP00000512302.1:n.*1673G=
ENST00000695976.1:c.3357G=	ENSP00000512303.1:p.Arg1119=
ENST00000695981.1:c.3546G=	ENSP00000512306.1:p.Arg1182=
ENST00000695984.1:c.1554G=	ENSP00000512309.1:p.Arg518=
ENST00000695986.1:c.*3197G=	ENSP00000512311.1:n.*3197G=
ENST00000695990.1:n.580G=
ENST00000696026.1:c.*1828G=	ENSP00000512335.1:n.*1828G=
ENST00000696027.1:c.3540G=	ENSP00000512336.1:p.Arg1180=
ENST00000696028.1:c.3474G=	ENSP00000512337.1:p.Arg1158=
ENST00000696029.1:c.3540G=	ENSP00000512338.1:p.Arg1180=
ENST00000696031.1:c.*3064G=	ENSP00000512340.1:n.*3064G=
ENST00000696032.1:c.3546G=	ENSP00000512341.1:p.Arg1182=
ENST00000696033.1:c.1160-32634G=	ENSP00000512342.1:n.1160-32634G=
ENST00000367429.9:c.3546G= MANE Select	ENSP00000356399.4:p.Arg1182=
ENST00000367429.8:c.3546G=	ENSP00000356399.4:p.Arg1182=
ENST00000466229.5:n.6644G=
NM_000186.3:c.3546G= , LRG_47t1:c.3546G=	NP_000177.2:p.Arg1182=
XR_001737134.2:n.3732G=
NM_000186.4:c.3546G= MANE Select	NP_000177.2:p.Arg1182=