Canonical Allele Identifier: CA1148885081

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747276A= , CM000663.2:g.196747276A=	GRCh38
NC_000001.10:g.196716406A= , CM000663.1:g.196716406A=	GRCh37
NC_000001.9:g.194983029A=	NCBI36
NG_007259.1:g.100266A= , LRG_47:g.100266A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4687A=
ENST00000695970.1:c.3485A=	ENSP00000512297.1:p.Asp1162=
ENST00000695971.1:c.3638A=	ENSP00000512298.1:p.Asp1213=
ENST00000695972.1:c.*736A=	ENSP00000512299.1:n.*736A=
ENST00000695973.1:c.*2023A=	ENSP00000512300.1:n.*2023A=
ENST00000695974.1:c.3482A=	ENSP00000512301.1:p.Asp1161=
ENST00000695975.1:c.*1786A=	ENSP00000512302.1:n.*1786A=
ENST00000695976.1:c.3470A=	ENSP00000512303.1:p.Asp1157=
ENST00000695981.1:c.3580+79A=	ENSP00000512306.1:n.3580+79A=
ENST00000695984.1:c.1667A=	ENSP00000512309.1:p.Asp556=
ENST00000695986.1:c.*3310A=	ENSP00000512311.1:n.*3310A=
ENST00000695990.1:n.693A=
ENST00000696026.1:c.*1941A=	ENSP00000512335.1:n.*1941A=
ENST00000696027.1:c.3653A=	ENSP00000512336.1:p.Asp1218=
ENST00000696028.1:c.3587A=	ENSP00000512337.1:p.Asp1196=
ENST00000696029.1:c.3653A=	ENSP00000512338.1:p.Asp1218=
ENST00000696031.1:c.*3177A=	ENSP00000512340.1:n.*3177A=
ENST00000696032.1:c.3580+79A=	ENSP00000512341.1:n.3580+79A=
ENST00000696033.1:c.1160-32521A=	ENSP00000512342.1:n.1160-32521A=
ENST00000367429.9:c.3659A= MANE Select	ENSP00000356399.4:p.Asp1220=
ENST00000367429.8:c.3659A=	ENSP00000356399.4:p.Asp1220=
ENST00000466229.5:n.6757A=
NM_000186.3:c.3659A= , LRG_47t1:c.3659A=	NP_000177.2:p.Asp1220=
XR_001737134.2:n.3845A=
NM_000186.4:c.3659A= MANE Select	NP_000177.2:p.Asp1220=