Canonical Allele Identifier: CA1217770798

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747311T= , CM000663.2:g.196747311T=	GRCh38
NC_000001.10:g.196716441T= , CM000663.1:g.196716441T=	GRCh37
NC_000001.9:g.194983064T=	NCBI36
NG_007259.1:g.100301T= , LRG_47:g.100301T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4722T=
ENST00000695970.1:c.3520T=	ENSP00000512297.1:p.Ter1174=
ENST00000695971.1:c.3673T=	ENSP00000512298.1:p.Ter1225=
ENST00000695972.1:c.*771T=	ENSP00000512299.1:n.*771T=
ENST00000695973.1:c.*2058T=	ENSP00000512300.1:n.*2058T=
ENST00000695974.1:c.3517T=	ENSP00000512301.1:p.Ter1173=
ENST00000695975.1:c.*1821T=	ENSP00000512302.1:n.*1821T=
ENST00000695976.1:c.3505T=	ENSP00000512303.1:p.Ter1169=
ENST00000695981.1:c.3580+114T=	ENSP00000512306.1:n.3580+114T=
ENST00000695984.1:c.1702T=	ENSP00000512309.1:p.Ter568=
ENST00000695986.1:c.*3345T=	ENSP00000512311.1:n.*3345T=
ENST00000695990.1:n.728T=
ENST00000696026.1:c.*1976T=	ENSP00000512335.1:n.*1976T=
ENST00000696027.1:c.3688T=	ENSP00000512336.1:p.Ter1230=
ENST00000696028.1:c.3622T=	ENSP00000512337.1:p.Ter1208=
ENST00000696029.1:c.3688T=	ENSP00000512338.1:p.Ter1230=
ENST00000696031.1:c.*3212T=	ENSP00000512340.1:n.*3212T=
ENST00000696032.1:c.3580+114T=	ENSP00000512341.1:n.3580+114T=
ENST00000696033.1:c.1160-32486T=	ENSP00000512342.1:n.1160-32486T=
ENST00000367429.9:c.3694T= MANE Select	ENSP00000356399.4:p.Ter1232=
ENST00000367429.8:c.3694T=	ENSP00000356399.4:p.Ter1232=
ENST00000466229.5:n.6792T=
NM_000186.3:c.3694T= , LRG_47t1:c.3694T=	NP_000177.2:p.Ter1232=
XR_001737134.2:n.3880T=
NM_000186.4:c.3694T= MANE Select	NP_000177.2:p.Ter1232=