Canonical Allele Identifier: CA1217768972

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743476C= , CM000663.2:g.196743476C=	GRCh38
NC_000001.10:g.196712606C= , CM000663.1:g.196712606C=	GRCh37
NC_000001.9:g.194979229C=	NCBI36
NG_007259.1:g.96466C= , LRG_47:g.96466C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4186C=
ENST00000695970.1:c.2984C=	ENSP00000512297.1:p.Thr995=
ENST00000695971.1:c.3137C=	ENSP00000512298.1:p.Thr1046=
ENST00000695972.1:c.*235C=	ENSP00000512299.1:n.*235C=
ENST00000695973.1:c.*1522C=	ENSP00000512300.1:n.*1522C=
ENST00000695974.1:c.2981C=	ENSP00000512301.1:p.Thr994=
ENST00000695975.1:c.*1285C=	ENSP00000512302.1:n.*1285C=
ENST00000695976.1:c.2969C=	ENSP00000512303.1:p.Thr990=
ENST00000695981.1:c.3158C=	ENSP00000512306.1:p.Thr1053=
ENST00000695984.1:c.1166C=	ENSP00000512309.1:p.Thr389=
ENST00000695986.1:c.*2809C=	ENSP00000512311.1:n.*2809C=
ENST00000696026.1:c.*1440C=	ENSP00000512335.1:n.*1440C=
ENST00000696027.1:c.3152C=	ENSP00000512336.1:p.Thr1051=
ENST00000696028.1:c.3086C=	ENSP00000512337.1:p.Thr1029=
ENST00000696029.1:c.3152C=	ENSP00000512338.1:p.Thr1051=
ENST00000696031.1:c.*2676C=	ENSP00000512340.1:n.*2676C=
ENST00000696032.1:c.3158C=	ENSP00000512341.1:p.Thr1053=
ENST00000696033.1:c.1160-36321C=	ENSP00000512342.1:n.1160-36321C=
ENST00000367429.9:c.3158C= MANE Select	ENSP00000356399.4:p.Thr1053=
ENST00000367429.8:c.3158C=	ENSP00000356399.4:p.Thr1053=
ENST00000466229.5:n.6256C=
NM_000186.3:c.3158C= , LRG_47t1:c.3158C=	NP_000177.2:p.Thr1053=
XR_001737134.2:n.3344C=
NM_000186.4:c.3158C= MANE Select	NP_000177.2:p.Thr1053=