Canonical Allele Identifier: CA1140567244

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743494T= , CM000663.2:g.196743494T=	GRCh38
NC_000001.10:g.196712624T= , CM000663.1:g.196712624T=	GRCh37
NC_000001.9:g.194979247T=	NCBI36
NG_007259.1:g.96484T= , LRG_47:g.96484T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4204T=
ENST00000695970.1:c.3002T=	ENSP00000512297.1:p.Ile1001=
ENST00000695971.1:c.3155T=	ENSP00000512298.1:p.Ile1052=
ENST00000695972.1:c.*253T=	ENSP00000512299.1:n.*253T=
ENST00000695973.1:c.*1540T=	ENSP00000512300.1:n.*1540T=
ENST00000695974.1:c.2999T=	ENSP00000512301.1:p.Ile1000=
ENST00000695975.1:c.*1303T=	ENSP00000512302.1:n.*1303T=
ENST00000695976.1:c.2987T=	ENSP00000512303.1:p.Ile996=
ENST00000695981.1:c.3176T=	ENSP00000512306.1:p.Ile1059=
ENST00000695984.1:c.1184T=	ENSP00000512309.1:p.Ile395=
ENST00000695986.1:c.*2827T=	ENSP00000512311.1:n.*2827T=
ENST00000696026.1:c.*1458T=	ENSP00000512335.1:n.*1458T=
ENST00000696027.1:c.3170T=	ENSP00000512336.1:p.Ile1057=
ENST00000696028.1:c.3104T=	ENSP00000512337.1:p.Ile1035=
ENST00000696029.1:c.3170T=	ENSP00000512338.1:p.Ile1057=
ENST00000696031.1:c.*2694T=	ENSP00000512340.1:n.*2694T=
ENST00000696032.1:c.3176T=	ENSP00000512341.1:p.Ile1059=
ENST00000696033.1:c.1160-36303T=	ENSP00000512342.1:n.1160-36303T=
ENST00000367429.9:c.3176T= MANE Select	ENSP00000356399.4:p.Ile1059=
ENST00000367429.8:c.3176T=	ENSP00000356399.4:p.Ile1059=
ENST00000466229.5:n.6274T=
NM_000186.3:c.3176T= , LRG_47t1:c.3176T=	NP_000177.2:p.Ile1059=
XR_001737134.2:n.3362T=
NM_000186.4:c.3176T= MANE Select	NP_000177.2:p.Ile1059=