Canonical Allele Identifier: CA1141247462

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743577G= , CM000663.2:g.196743577G=	GRCh38
NC_000001.10:g.196712707G= , CM000663.1:g.196712707G=	GRCh37
NC_000001.9:g.194979330G=	NCBI36
NG_007259.1:g.96567G= , LRG_47:g.96567G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4287G=
ENST00000695970.1:c.3085G=	ENSP00000512297.1:p.Glu1029=
ENST00000695971.1:c.3238G=	ENSP00000512298.1:p.Glu1080=
ENST00000695972.1:c.*336G=	ENSP00000512299.1:n.*336G=
ENST00000695973.1:c.*1623G=	ENSP00000512300.1:n.*1623G=
ENST00000695974.1:c.3082G=	ENSP00000512301.1:p.Glu1028=
ENST00000695975.1:c.*1386G=	ENSP00000512302.1:n.*1386G=
ENST00000695976.1:c.3070G=	ENSP00000512303.1:p.Glu1024=
ENST00000695981.1:c.3259G=	ENSP00000512306.1:p.Glu1087=
ENST00000695984.1:c.1267G=	ENSP00000512309.1:p.Glu423=
ENST00000695986.1:c.*2910G=	ENSP00000512311.1:n.*2910G=
ENST00000696026.1:c.*1541G=	ENSP00000512335.1:n.*1541G=
ENST00000696027.1:c.3253G=	ENSP00000512336.1:p.Glu1085=
ENST00000696028.1:c.3187G=	ENSP00000512337.1:p.Glu1063=
ENST00000696029.1:c.3253G=	ENSP00000512338.1:p.Glu1085=
ENST00000696031.1:c.*2777G=	ENSP00000512340.1:n.*2777G=
ENST00000696032.1:c.3259G=	ENSP00000512341.1:p.Glu1087=
ENST00000696033.1:c.1160-36220G=	ENSP00000512342.1:n.1160-36220G=
ENST00000367429.9:c.3259G= MANE Select	ENSP00000356399.4:p.Glu1087=
ENST00000367429.8:c.3259G=	ENSP00000356399.4:p.Glu1087=
ENST00000466229.5:n.6357G=
NM_000186.3:c.3259G= , LRG_47t1:c.3259G=	NP_000177.2:p.Glu1087=
XR_001737134.2:n.3445G=
NM_000186.4:c.3259G= MANE Select	NP_000177.2:p.Glu1087=