Canonical Allele Identifier: CA1217770781

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747244A= , CM000663.2:g.196747244A=	GRCh38
NC_000001.10:g.196716374A= , CM000663.1:g.196716374A=	GRCh37
NC_000001.9:g.194982997A=	NCBI36
NG_007259.1:g.100234A= , LRG_47:g.100234A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4655A=
ENST00000695970.1:c.3453A=	ENSP00000512297.1:p.Ser1151=
ENST00000695971.1:c.3606A=	ENSP00000512298.1:p.Ser1202=
ENST00000695972.1:c.*704A=	ENSP00000512299.1:n.*704A=
ENST00000695973.1:c.*1991A=	ENSP00000512300.1:n.*1991A=
ENST00000695974.1:c.3450A=	ENSP00000512301.1:p.Ser1150=
ENST00000695975.1:c.*1754A=	ENSP00000512302.1:n.*1754A=
ENST00000695976.1:c.3438A=	ENSP00000512303.1:p.Ser1146=
ENST00000695981.1:c.3580+47A=	ENSP00000512306.1:n.3580+47A=
ENST00000695984.1:c.1635A=	ENSP00000512309.1:p.Ser545=
ENST00000695986.1:c.*3278A=	ENSP00000512311.1:n.*3278A=
ENST00000695990.1:n.661A=
ENST00000696026.1:c.*1909A=	ENSP00000512335.1:n.*1909A=
ENST00000696027.1:c.3621A=	ENSP00000512336.1:p.Ser1207=
ENST00000696028.1:c.3555A=	ENSP00000512337.1:p.Ser1185=
ENST00000696029.1:c.3621A=	ENSP00000512338.1:p.Ser1207=
ENST00000696031.1:c.*3145A=	ENSP00000512340.1:n.*3145A=
ENST00000696032.1:c.3580+47A=	ENSP00000512341.1:n.3580+47A=
ENST00000696033.1:c.1160-32553A=	ENSP00000512342.1:n.1160-32553A=
ENST00000367429.9:c.3627A= MANE Select	ENSP00000356399.4:p.Ser1209=
ENST00000367429.8:c.3627A=	ENSP00000356399.4:p.Ser1209=
ENST00000466229.5:n.6725A=
NM_000186.3:c.3627A= , LRG_47t1:c.3627A=	NP_000177.2:p.Ser1209=
XR_001737134.2:n.3813A=
NM_000186.4:c.3627A= MANE Select	NP_000177.2:p.Ser1209=