Canonical Allele Identifier: CA1217769006

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743542A= , CM000663.2:g.196743542A=	GRCh38
NC_000001.10:g.196712672A= , CM000663.1:g.196712672A=	GRCh37
NC_000001.9:g.194979295A=	NCBI36
NG_007259.1:g.96532A= , LRG_47:g.96532A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4252A=
ENST00000695970.1:c.3050A=	ENSP00000512297.1:p.Tyr1017=
ENST00000695971.1:c.3203A=	ENSP00000512298.1:p.Tyr1068=
ENST00000695972.1:c.*301A=	ENSP00000512299.1:n.*301A=
ENST00000695973.1:c.*1588A=	ENSP00000512300.1:n.*1588A=
ENST00000695974.1:c.3047A=	ENSP00000512301.1:p.Tyr1016=
ENST00000695975.1:c.*1351A=	ENSP00000512302.1:n.*1351A=
ENST00000695976.1:c.3035A=	ENSP00000512303.1:p.Tyr1012=
ENST00000695981.1:c.3224A=	ENSP00000512306.1:p.Tyr1075=
ENST00000695984.1:c.1232A=	ENSP00000512309.1:p.Tyr411=
ENST00000695986.1:c.*2875A=	ENSP00000512311.1:n.*2875A=
ENST00000696026.1:c.*1506A=	ENSP00000512335.1:n.*1506A=
ENST00000696027.1:c.3218A=	ENSP00000512336.1:p.Tyr1073=
ENST00000696028.1:c.3152A=	ENSP00000512337.1:p.Tyr1051=
ENST00000696029.1:c.3218A=	ENSP00000512338.1:p.Tyr1073=
ENST00000696031.1:c.*2742A=	ENSP00000512340.1:n.*2742A=
ENST00000696032.1:c.3224A=	ENSP00000512341.1:p.Tyr1075=
ENST00000696033.1:c.1160-36255A=	ENSP00000512342.1:n.1160-36255A=
ENST00000367429.9:c.3224A= MANE Select	ENSP00000356399.4:p.Tyr1075=
ENST00000367429.8:c.3224A=	ENSP00000356399.4:p.Tyr1075=
ENST00000466229.5:n.6322A=
NM_000186.3:c.3224A= , LRG_47t1:c.3224A=	NP_000177.2:p.Tyr1075=
XR_001737134.2:n.3410A=
NM_000186.4:c.3224A= MANE Select	NP_000177.2:p.Tyr1075=