Canonical Allele Identifier: CA1217769012

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743553A= , CM000663.2:g.196743553A=	GRCh38
NC_000001.10:g.196712683A= , CM000663.1:g.196712683A=	GRCh37
NC_000001.9:g.194979306A=	NCBI36
NG_007259.1:g.96543A= , LRG_47:g.96543A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4263A=
ENST00000695970.1:c.3061A=	ENSP00000512297.1:p.Ser1021=
ENST00000695971.1:c.3214A=	ENSP00000512298.1:p.Ser1072=
ENST00000695972.1:c.*312A=	ENSP00000512299.1:n.*312A=
ENST00000695973.1:c.*1599A=	ENSP00000512300.1:n.*1599A=
ENST00000695974.1:c.3058A=	ENSP00000512301.1:p.Ser1020=
ENST00000695975.1:c.*1362A=	ENSP00000512302.1:n.*1362A=
ENST00000695976.1:c.3046A=	ENSP00000512303.1:p.Ser1016=
ENST00000695981.1:c.3235A=	ENSP00000512306.1:p.Ser1079=
ENST00000695984.1:c.1243A=	ENSP00000512309.1:p.Ser415=
ENST00000695986.1:c.*2886A=	ENSP00000512311.1:n.*2886A=
ENST00000696026.1:c.*1517A=	ENSP00000512335.1:n.*1517A=
ENST00000696027.1:c.3229A=	ENSP00000512336.1:p.Ser1077=
ENST00000696028.1:c.3163A=	ENSP00000512337.1:p.Ser1055=
ENST00000696029.1:c.3229A=	ENSP00000512338.1:p.Ser1077=
ENST00000696031.1:c.*2753A=	ENSP00000512340.1:n.*2753A=
ENST00000696032.1:c.3235A=	ENSP00000512341.1:p.Ser1079=
ENST00000696033.1:c.1160-36244A=	ENSP00000512342.1:n.1160-36244A=
ENST00000367429.9:c.3235A= MANE Select	ENSP00000356399.4:p.Ser1079=
ENST00000367429.8:c.3235A=	ENSP00000356399.4:p.Ser1079=
ENST00000466229.5:n.6333A=
NM_000186.3:c.3235A= , LRG_47t1:c.3235A=	NP_000177.2:p.Ser1079=
XR_001737134.2:n.3421A=
NM_000186.4:c.3235A= MANE Select	NP_000177.2:p.Ser1079=