Canonical Allele Identifier: CA1217770785

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747255C= , CM000663.2:g.196747255C=	GRCh38
NC_000001.10:g.196716385C= , CM000663.1:g.196716385C=	GRCh37
NC_000001.9:g.194983008C=	NCBI36
NG_007259.1:g.100245C= , LRG_47:g.100245C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4666C=
ENST00000695970.1:c.3464C=	ENSP00000512297.1:p.Thr1155=
ENST00000695971.1:c.3617C=	ENSP00000512298.1:p.Thr1206=
ENST00000695972.1:c.*715C=	ENSP00000512299.1:n.*715C=
ENST00000695973.1:c.*2002C=	ENSP00000512300.1:n.*2002C=
ENST00000695974.1:c.3461C=	ENSP00000512301.1:p.Thr1154=
ENST00000695975.1:c.*1765C=	ENSP00000512302.1:n.*1765C=
ENST00000695976.1:c.3449C=	ENSP00000512303.1:p.Thr1150=
ENST00000695981.1:c.3580+58C=	ENSP00000512306.1:n.3580+58C=
ENST00000695984.1:c.1646C=	ENSP00000512309.1:p.Thr549=
ENST00000695986.1:c.*3289C=	ENSP00000512311.1:n.*3289C=
ENST00000695990.1:n.672C=
ENST00000696026.1:c.*1920C=	ENSP00000512335.1:n.*1920C=
ENST00000696027.1:c.3632C=	ENSP00000512336.1:p.Thr1211=
ENST00000696028.1:c.3566C=	ENSP00000512337.1:p.Thr1189=
ENST00000696029.1:c.3632C=	ENSP00000512338.1:p.Thr1211=
ENST00000696031.1:c.*3156C=	ENSP00000512340.1:n.*3156C=
ENST00000696032.1:c.3580+58C=	ENSP00000512341.1:n.3580+58C=
ENST00000696033.1:c.1160-32542C=	ENSP00000512342.1:n.1160-32542C=
ENST00000367429.9:c.3638C= MANE Select	ENSP00000356399.4:p.Thr1213=
ENST00000367429.8:c.3638C=	ENSP00000356399.4:p.Thr1213=
ENST00000466229.5:n.6736C=
NM_000186.3:c.3638C= , LRG_47t1:c.3638C=	NP_000177.2:p.Thr1213=
XR_001737134.2:n.3824C=
NM_000186.4:c.3638C= MANE Select	NP_000177.2:p.Thr1213=