Canonical Allele Identifier: CA1217768995

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743519T= , CM000663.2:g.196743519T=	GRCh38
NC_000001.10:g.196712649T= , CM000663.1:g.196712649T=	GRCh37
NC_000001.9:g.194979272T=	NCBI36
NG_007259.1:g.96509T= , LRG_47:g.96509T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4229T=
ENST00000695970.1:c.3027T=	ENSP00000512297.1:p.Tyr1009=
ENST00000695971.1:c.3180T=	ENSP00000512298.1:p.Tyr1060=
ENST00000695972.1:c.*278T=	ENSP00000512299.1:n.*278T=
ENST00000695973.1:c.*1565T=	ENSP00000512300.1:n.*1565T=
ENST00000695974.1:c.3024T=	ENSP00000512301.1:p.Tyr1008=
ENST00000695975.1:c.*1328T=	ENSP00000512302.1:n.*1328T=
ENST00000695976.1:c.3012T=	ENSP00000512303.1:p.Tyr1004=
ENST00000695981.1:c.3201T=	ENSP00000512306.1:p.Tyr1067=
ENST00000695984.1:c.1209T=	ENSP00000512309.1:p.Tyr403=
ENST00000695986.1:c.*2852T=	ENSP00000512311.1:n.*2852T=
ENST00000696026.1:c.*1483T=	ENSP00000512335.1:n.*1483T=
ENST00000696027.1:c.3195T=	ENSP00000512336.1:p.Tyr1065=
ENST00000696028.1:c.3129T=	ENSP00000512337.1:p.Tyr1043=
ENST00000696029.1:c.3195T=	ENSP00000512338.1:p.Tyr1065=
ENST00000696031.1:c.*2719T=	ENSP00000512340.1:n.*2719T=
ENST00000696032.1:c.3201T=	ENSP00000512341.1:p.Tyr1067=
ENST00000696033.1:c.1160-36278T=	ENSP00000512342.1:n.1160-36278T=
ENST00000367429.9:c.3201T= MANE Select	ENSP00000356399.4:p.Tyr1067=
ENST00000367429.8:c.3201T=	ENSP00000356399.4:p.Tyr1067=
ENST00000466229.5:n.6299T=
NM_000186.3:c.3201T= , LRG_47t1:c.3201T=	NP_000177.2:p.Tyr1067=
XR_001737134.2:n.3387T=
NM_000186.4:c.3201T= MANE Select	NP_000177.2:p.Tyr1067=