Canonical Allele Identifier: CA1217770761

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747181G= , CM000663.2:g.196747181G=	GRCh38
NC_000001.10:g.196716311G= , CM000663.1:g.196716311G=	GRCh37
NC_000001.9:g.194982934G=	NCBI36
NG_007259.1:g.100171G= , LRG_47:g.100171G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4592G=
ENST00000695970.1:c.3390G=	ENSP00000512297.1:p.Lys1130=
ENST00000695971.1:c.3543G=	ENSP00000512298.1:p.Lys1181=
ENST00000695972.1:c.*641G=	ENSP00000512299.1:n.*641G=
ENST00000695973.1:c.*1928G=	ENSP00000512300.1:n.*1928G=
ENST00000695974.1:c.3387G=	ENSP00000512301.1:p.Lys1129=
ENST00000695975.1:c.*1691G=	ENSP00000512302.1:n.*1691G=
ENST00000695976.1:c.3375G=	ENSP00000512303.1:p.Lys1125=
ENST00000695981.1:c.3564G=	ENSP00000512306.1:p.Lys1188=
ENST00000695984.1:c.1572G=	ENSP00000512309.1:p.Lys524=
ENST00000695986.1:c.*3215G=	ENSP00000512311.1:n.*3215G=
ENST00000695990.1:n.598G=
ENST00000696026.1:c.*1846G=	ENSP00000512335.1:n.*1846G=
ENST00000696027.1:c.3558G=	ENSP00000512336.1:p.Lys1186=
ENST00000696028.1:c.3492G=	ENSP00000512337.1:p.Lys1164=
ENST00000696029.1:c.3558G=	ENSP00000512338.1:p.Lys1186=
ENST00000696031.1:c.*3082G=	ENSP00000512340.1:n.*3082G=
ENST00000696032.1:c.3564G=	ENSP00000512341.1:p.Lys1188=
ENST00000696033.1:c.1160-32616G=	ENSP00000512342.1:n.1160-32616G=
ENST00000367429.9:c.3564G= MANE Select	ENSP00000356399.4:p.Lys1188=
ENST00000367429.8:c.3564G=	ENSP00000356399.4:p.Lys1188=
ENST00000466229.5:n.6662G=
NM_000186.3:c.3564G= , LRG_47t1:c.3564G=	NP_000177.2:p.Lys1188=
XR_001737134.2:n.3750G=
NM_000186.4:c.3564G= MANE Select	NP_000177.2:p.Lys1188=