Canonical Allele Identifier: CA1217770752

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747160A= , CM000663.2:g.196747160A=	GRCh38
NC_000001.10:g.196716290A= , CM000663.1:g.196716290A=	GRCh37
NC_000001.9:g.194982913A=	NCBI36
NG_007259.1:g.100150A= , LRG_47:g.100150A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4571A=
ENST00000695970.1:c.3369A=	ENSP00000512297.1:p.Leu1123=
ENST00000695971.1:c.3522A=	ENSP00000512298.1:p.Leu1174=
ENST00000695972.1:c.*620A=	ENSP00000512299.1:n.*620A=
ENST00000695973.1:c.*1907A=	ENSP00000512300.1:n.*1907A=
ENST00000695974.1:c.3366A=	ENSP00000512301.1:p.Leu1122=
ENST00000695975.1:c.*1670A=	ENSP00000512302.1:n.*1670A=
ENST00000695976.1:c.3354A=	ENSP00000512303.1:p.Leu1118=
ENST00000695981.1:c.3543A=	ENSP00000512306.1:p.Leu1181=
ENST00000695984.1:c.1551A=	ENSP00000512309.1:p.Leu517=
ENST00000695986.1:c.*3194A=	ENSP00000512311.1:n.*3194A=
ENST00000695990.1:n.577A=
ENST00000696026.1:c.*1825A=	ENSP00000512335.1:n.*1825A=
ENST00000696027.1:c.3537A=	ENSP00000512336.1:p.Leu1179=
ENST00000696028.1:c.3471A=	ENSP00000512337.1:p.Leu1157=
ENST00000696029.1:c.3537A=	ENSP00000512338.1:p.Leu1179=
ENST00000696031.1:c.*3061A=	ENSP00000512340.1:n.*3061A=
ENST00000696032.1:c.3543A=	ENSP00000512341.1:p.Leu1181=
ENST00000696033.1:c.1160-32637A=	ENSP00000512342.1:n.1160-32637A=
ENST00000367429.9:c.3543A= MANE Select	ENSP00000356399.4:p.Leu1181=
ENST00000367429.8:c.3543A=	ENSP00000356399.4:p.Leu1181=
ENST00000466229.5:n.6641A=
NM_000186.3:c.3543A= , LRG_47t1:c.3543A=	NP_000177.2:p.Leu1181=
XR_001737134.2:n.3729A=
NM_000186.4:c.3543A= MANE Select	NP_000177.2:p.Leu1181=