Canonical Allele Identifier: CA1217770755

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747167A= , CM000663.2:g.196747167A=	GRCh38
NC_000001.10:g.196716297A= , CM000663.1:g.196716297A=	GRCh37
NC_000001.9:g.194982920A=	NCBI36
NG_007259.1:g.100157A= , LRG_47:g.100157A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4578A=
ENST00000695970.1:c.3376A=	ENSP00000512297.1:p.Thr1126=
ENST00000695971.1:c.3529A=	ENSP00000512298.1:p.Thr1177=
ENST00000695972.1:c.*627A=	ENSP00000512299.1:n.*627A=
ENST00000695973.1:c.*1914A=	ENSP00000512300.1:n.*1914A=
ENST00000695974.1:c.3373A=	ENSP00000512301.1:p.Thr1125=
ENST00000695975.1:c.*1677A=	ENSP00000512302.1:n.*1677A=
ENST00000695976.1:c.3361A=	ENSP00000512303.1:p.Thr1121=
ENST00000695981.1:c.3550A=	ENSP00000512306.1:p.Thr1184=
ENST00000695984.1:c.1558A=	ENSP00000512309.1:p.Thr520=
ENST00000695986.1:c.*3201A=	ENSP00000512311.1:n.*3201A=
ENST00000695990.1:n.584A=
ENST00000696026.1:c.*1832A=	ENSP00000512335.1:n.*1832A=
ENST00000696027.1:c.3544A=	ENSP00000512336.1:p.Thr1182=
ENST00000696028.1:c.3478A=	ENSP00000512337.1:p.Thr1160=
ENST00000696029.1:c.3544A=	ENSP00000512338.1:p.Thr1182=
ENST00000696031.1:c.*3068A=	ENSP00000512340.1:n.*3068A=
ENST00000696032.1:c.3550A=	ENSP00000512341.1:p.Thr1184=
ENST00000696033.1:c.1160-32630A=	ENSP00000512342.1:n.1160-32630A=
ENST00000367429.9:c.3550A= MANE Select	ENSP00000356399.4:p.Thr1184=
ENST00000367429.8:c.3550A=	ENSP00000356399.4:p.Thr1184=
ENST00000466229.5:n.6648A=
NM_000186.3:c.3550A= , LRG_47t1:c.3550A=	NP_000177.2:p.Thr1184=
XR_001737134.2:n.3736A=
NM_000186.4:c.3550A= MANE Select	NP_000177.2:p.Thr1184=