Canonical Allele Identifier: CA1217768963

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743453C= , CM000663.2:g.196743453C=	GRCh38
NC_000001.10:g.196712583C= , CM000663.1:g.196712583C=	GRCh37
NC_000001.9:g.194979206C=	NCBI36
NG_007259.1:g.96443C= , LRG_47:g.96443C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4163C=
ENST00000695970.1:c.2961C=	ENSP00000512297.1:p.Asp987=
ENST00000695971.1:c.3114C=	ENSP00000512298.1:p.Asp1038=
ENST00000695972.1:c.*212C=	ENSP00000512299.1:n.*212C=
ENST00000695973.1:c.*1499C=	ENSP00000512300.1:n.*1499C=
ENST00000695974.1:c.2958C=	ENSP00000512301.1:p.Asp986=
ENST00000695975.1:c.*1262C=	ENSP00000512302.1:n.*1262C=
ENST00000695976.1:c.2946C=	ENSP00000512303.1:p.Asp982=
ENST00000695981.1:c.3135C=	ENSP00000512306.1:p.Asp1045=
ENST00000695984.1:c.1143C=	ENSP00000512309.1:p.Asp381=
ENST00000695986.1:c.*2786C=	ENSP00000512311.1:n.*2786C=
ENST00000696026.1:c.*1417C=	ENSP00000512335.1:n.*1417C=
ENST00000696027.1:c.3129C=	ENSP00000512336.1:p.Asp1043=
ENST00000696028.1:c.3063C=	ENSP00000512337.1:p.Asp1021=
ENST00000696029.1:c.3129C=	ENSP00000512338.1:p.Asp1043=
ENST00000696031.1:c.*2653C=	ENSP00000512340.1:n.*2653C=
ENST00000696032.1:c.3135C=	ENSP00000512341.1:p.Asp1045=
ENST00000696033.1:c.1160-36344C=	ENSP00000512342.1:n.1160-36344C=
ENST00000367429.9:c.3135C= MANE Select	ENSP00000356399.4:p.Asp1045=
ENST00000367429.8:c.3135C=	ENSP00000356399.4:p.Asp1045=
ENST00000466229.5:n.6233C=
NM_000186.3:c.3135C= , LRG_47t1:c.3135C=	NP_000177.2:p.Asp1045=
XR_001737134.2:n.3321C=
NM_000186.4:c.3135C= MANE Select	NP_000177.2:p.Asp1045=