Canonical Allele Identifier: CA1217768989

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743507G= , CM000663.2:g.196743507G=	GRCh38
NC_000001.10:g.196712637G= , CM000663.1:g.196712637G=	GRCh37
NC_000001.9:g.194979260G=	NCBI36
NG_007259.1:g.96497G= , LRG_47:g.96497G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4217G=
ENST00000695970.1:c.3015G=	ENSP00000512297.1:p.Gln1005=
ENST00000695971.1:c.3168G=	ENSP00000512298.1:p.Gln1056=
ENST00000695972.1:c.*266G=	ENSP00000512299.1:n.*266G=
ENST00000695973.1:c.*1553G=	ENSP00000512300.1:n.*1553G=
ENST00000695974.1:c.3012G=	ENSP00000512301.1:p.Gln1004=
ENST00000695975.1:c.*1316G=	ENSP00000512302.1:n.*1316G=
ENST00000695976.1:c.3000G=	ENSP00000512303.1:p.Gln1000=
ENST00000695981.1:c.3189G=	ENSP00000512306.1:p.Gln1063=
ENST00000695984.1:c.1197G=	ENSP00000512309.1:p.Gln399=
ENST00000695986.1:c.*2840G=	ENSP00000512311.1:n.*2840G=
ENST00000696026.1:c.*1471G=	ENSP00000512335.1:n.*1471G=
ENST00000696027.1:c.3183G=	ENSP00000512336.1:p.Gln1061=
ENST00000696028.1:c.3117G=	ENSP00000512337.1:p.Gln1039=
ENST00000696029.1:c.3183G=	ENSP00000512338.1:p.Gln1061=
ENST00000696031.1:c.*2707G=	ENSP00000512340.1:n.*2707G=
ENST00000696032.1:c.3189G=	ENSP00000512341.1:p.Gln1063=
ENST00000696033.1:c.1160-36290G=	ENSP00000512342.1:n.1160-36290G=
ENST00000367429.9:c.3189G= MANE Select	ENSP00000356399.4:p.Gln1063=
ENST00000367429.8:c.3189G=	ENSP00000356399.4:p.Gln1063=
ENST00000466229.5:n.6287G=
NM_000186.3:c.3189G= , LRG_47t1:c.3189G=	NP_000177.2:p.Gln1063=
XR_001737134.2:n.3375G=
NM_000186.4:c.3189G= MANE Select	NP_000177.2:p.Gln1063=