Canonical Allele Identifier: CA1139850435

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740644G= , CM000663.2:g.196740644G=	GRCh38
NC_000001.10:g.196709774G= , CM000663.1:g.196709774G=	GRCh37
NC_000001.9:g.194976397G=	NCBI36
NG_007259.1:g.93634G= , LRG_47:g.93634G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.3074G=
ENST00000695970.1:c.2783-1231G=	ENSP00000512297.1:n.2783-1231G=
ENST00000695971.1:c.2787G=	ENSP00000512298.1:p.Glu929=
ENST00000695972.1:c.2233-20G=	ENSP00000512299.1:n.2233-20G=
ENST00000695973.1:c.*1172G=	ENSP00000512300.1:n.*1172G=
ENST00000695974.1:c.2631G=	ENSP00000512301.1:p.Glu877=
ENST00000695975.1:c.*935G=	ENSP00000512302.1:n.*935G=
ENST00000695976.1:c.2619G=	ENSP00000512303.1:p.Glu873=
ENST00000695981.1:c.2808G=	ENSP00000512306.1:p.Glu936=
ENST00000695983.1:c.2808G=	ENSP00000512308.1:p.Glu936=
ENST00000695984.1:c.816G=	ENSP00000512309.1:p.Glu272=
ENST00000695986.1:c.*2459G=	ENSP00000512311.1:n.*2459G=
ENST00000696025.1:n.2892G=
ENST00000696026.1:c.*1090G=	ENSP00000512335.1:n.*1090G=
ENST00000696027.1:c.2802G=	ENSP00000512336.1:p.Glu934=
ENST00000696028.1:c.2808G=	ENSP00000512337.1:p.Glu936=
ENST00000696029.1:c.2808G=	ENSP00000512338.1:p.Glu936=
ENST00000696031.1:c.*2326G=	ENSP00000512340.1:n.*2326G=
ENST00000696032.1:c.2808G=	ENSP00000512341.1:p.Glu936=
ENST00000696033.1:c.1160-39153G=	ENSP00000512342.1:n.1160-39153G=
ENST00000367429.9:c.2808G= MANE Select	ENSP00000356399.4:p.Glu936=
ENST00000367429.8:c.2808G=	ENSP00000356399.4:p.Glu936=
ENST00000466229.5:n.4824G=
ENST00000470918.1:n.311G=
NM_000186.3:c.2808G= , LRG_47t1:c.2808G=	NP_000177.2:p.Glu936=
XR_001737134.2:n.2994G=
NM_000186.4:c.2808G= MANE Select	NP_000177.2:p.Glu936=