Canonical Allele Identifier: CA1149115184

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747162G= , CM000663.2:g.196747162G=	GRCh38
NC_000001.10:g.196716292G= , CM000663.1:g.196716292G=	GRCh37
NC_000001.9:g.194982915G=	NCBI36
NG_007259.1:g.100152G= , LRG_47:g.100152G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4573G=
ENST00000695970.1:c.3371G=	ENSP00000512297.1:p.Arg1124=
ENST00000695971.1:c.3524G=	ENSP00000512298.1:p.Arg1175=
ENST00000695972.1:c.*622G=	ENSP00000512299.1:n.*622G=
ENST00000695973.1:c.*1909G=	ENSP00000512300.1:n.*1909G=
ENST00000695974.1:c.3368G=	ENSP00000512301.1:p.Arg1123=
ENST00000695975.1:c.*1672G=	ENSP00000512302.1:n.*1672G=
ENST00000695976.1:c.3356G=	ENSP00000512303.1:p.Arg1119=
ENST00000695981.1:c.3545G=	ENSP00000512306.1:p.Arg1182=
ENST00000695984.1:c.1553G=	ENSP00000512309.1:p.Arg518=
ENST00000695986.1:c.*3196G=	ENSP00000512311.1:n.*3196G=
ENST00000695990.1:n.579G=
ENST00000696026.1:c.*1827G=	ENSP00000512335.1:n.*1827G=
ENST00000696027.1:c.3539G=	ENSP00000512336.1:p.Arg1180=
ENST00000696028.1:c.3473G=	ENSP00000512337.1:p.Arg1158=
ENST00000696029.1:c.3539G=	ENSP00000512338.1:p.Arg1180=
ENST00000696031.1:c.*3063G=	ENSP00000512340.1:n.*3063G=
ENST00000696032.1:c.3545G=	ENSP00000512341.1:p.Arg1182=
ENST00000696033.1:c.1160-32635G=	ENSP00000512342.1:n.1160-32635G=
ENST00000367429.9:c.3545G= MANE Select	ENSP00000356399.4:p.Arg1182=
ENST00000367429.8:c.3545G=	ENSP00000356399.4:p.Arg1182=
ENST00000466229.5:n.6643G=
NM_000186.3:c.3545G= , LRG_47t1:c.3545G=	NP_000177.2:p.Arg1182=
XR_001737134.2:n.3731G=
NM_000186.4:c.3545G= MANE Select	NP_000177.2:p.Arg1182=