Canonical Allele Identifier: CA1217769025

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743580G= , CM000663.2:g.196743580G=	GRCh38
NC_000001.10:g.196712710G= , CM000663.1:g.196712710G=	GRCh37
NC_000001.9:g.194979333G=	NCBI36
NG_007259.1:g.96570G= , LRG_47:g.96570G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4290G=
ENST00000695970.1:c.3088G=	ENSP00000512297.1:p.Glu1030=
ENST00000695971.1:c.3241G=	ENSP00000512298.1:p.Glu1081=
ENST00000695972.1:c.*339G=	ENSP00000512299.1:n.*339G=
ENST00000695973.1:c.*1626G=	ENSP00000512300.1:n.*1626G=
ENST00000695974.1:c.3085G=	ENSP00000512301.1:p.Glu1029=
ENST00000695975.1:c.*1389G=	ENSP00000512302.1:n.*1389G=
ENST00000695976.1:c.3073G=	ENSP00000512303.1:p.Glu1025=
ENST00000695981.1:c.3262G=	ENSP00000512306.1:p.Glu1088=
ENST00000695984.1:c.1270G=	ENSP00000512309.1:p.Glu424=
ENST00000695986.1:c.*2913G=	ENSP00000512311.1:n.*2913G=
ENST00000696026.1:c.*1544G=	ENSP00000512335.1:n.*1544G=
ENST00000696027.1:c.3256G=	ENSP00000512336.1:p.Glu1086=
ENST00000696028.1:c.3190G=	ENSP00000512337.1:p.Glu1064=
ENST00000696029.1:c.3256G=	ENSP00000512338.1:p.Glu1086=
ENST00000696031.1:c.*2780G=	ENSP00000512340.1:n.*2780G=
ENST00000696032.1:c.3262G=	ENSP00000512341.1:p.Glu1088=
ENST00000696033.1:c.1160-36217G=	ENSP00000512342.1:n.1160-36217G=
ENST00000367429.9:c.3262G= MANE Select	ENSP00000356399.4:p.Glu1088=
ENST00000367429.8:c.3262G=	ENSP00000356399.4:p.Glu1088=
ENST00000466229.5:n.6360G=
NM_000186.3:c.3262G= , LRG_47t1:c.3262G=	NP_000177.2:p.Glu1088=
XR_001737134.2:n.3448G=
NM_000186.4:c.3262G= MANE Select	NP_000177.2:p.Glu1088=