Canonical Allele Identifier: CA1140762924

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743544C= , CM000663.2:g.196743544C=	GRCh38
NC_000001.10:g.196712674C= , CM000663.1:g.196712674C=	GRCh37
NC_000001.9:g.194979297C=	NCBI36
NG_007259.1:g.96534C= , LRG_47:g.96534C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4254C=
ENST00000695970.1:c.3052C=	ENSP00000512297.1:p.Gln1018=
ENST00000695971.1:c.3205C=	ENSP00000512298.1:p.Gln1069=
ENST00000695972.1:c.*303C=	ENSP00000512299.1:n.*303C=
ENST00000695973.1:c.*1590C=	ENSP00000512300.1:n.*1590C=
ENST00000695974.1:c.3049C=	ENSP00000512301.1:p.Gln1017=
ENST00000695975.1:c.*1353C=	ENSP00000512302.1:n.*1353C=
ENST00000695976.1:c.3037C=	ENSP00000512303.1:p.Gln1013=
ENST00000695981.1:c.3226C=	ENSP00000512306.1:p.Gln1076=
ENST00000695984.1:c.1234C=	ENSP00000512309.1:p.Gln412=
ENST00000695986.1:c.*2877C=	ENSP00000512311.1:n.*2877C=
ENST00000696026.1:c.*1508C=	ENSP00000512335.1:n.*1508C=
ENST00000696027.1:c.3220C=	ENSP00000512336.1:p.Gln1074=
ENST00000696028.1:c.3154C=	ENSP00000512337.1:p.Gln1052=
ENST00000696029.1:c.3220C=	ENSP00000512338.1:p.Gln1074=
ENST00000696031.1:c.*2744C=	ENSP00000512340.1:n.*2744C=
ENST00000696032.1:c.3226C=	ENSP00000512341.1:p.Gln1076=
ENST00000696033.1:c.1160-36253C=	ENSP00000512342.1:n.1160-36253C=
ENST00000367429.9:c.3226C= MANE Select	ENSP00000356399.4:p.Gln1076=
ENST00000367429.8:c.3226C=	ENSP00000356399.4:p.Gln1076=
ENST00000466229.5:n.6324C=
NM_000186.3:c.3226C= , LRG_47t1:c.3226C=	NP_000177.2:p.Gln1076=
XR_001737134.2:n.3412C=
NM_000186.4:c.3226C= MANE Select	NP_000177.2:p.Gln1076=