Canonical Allele Identifier: CA1139794815

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743609G= , CM000663.2:g.196743609G=	GRCh38
NC_000001.10:g.196712739G= , CM000663.1:g.196712739G=	GRCh37
NC_000001.9:g.194979362G=	NCBI36
NG_007259.1:g.96599G= , LRG_47:g.96599G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4319G=
ENST00000695970.1:c.3117G=	ENSP00000512297.1:p.Thr1039=
ENST00000695971.1:c.3270G=	ENSP00000512298.1:p.Thr1090=
ENST00000695972.1:c.*368G=	ENSP00000512299.1:n.*368G=
ENST00000695973.1:c.*1655G=	ENSP00000512300.1:n.*1655G=
ENST00000695974.1:c.3114G=	ENSP00000512301.1:p.Thr1038=
ENST00000695975.1:c.*1418G=	ENSP00000512302.1:n.*1418G=
ENST00000695976.1:c.3102G=	ENSP00000512303.1:p.Thr1034=
ENST00000695981.1:c.3291G=	ENSP00000512306.1:p.Thr1097=
ENST00000695984.1:c.1299G=	ENSP00000512309.1:p.Thr433=
ENST00000695986.1:c.*2942G=	ENSP00000512311.1:n.*2942G=
ENST00000696026.1:c.*1573G=	ENSP00000512335.1:n.*1573G=
ENST00000696027.1:c.3285G=	ENSP00000512336.1:p.Thr1095=
ENST00000696028.1:c.3219G=	ENSP00000512337.1:p.Thr1073=
ENST00000696029.1:c.3285G=	ENSP00000512338.1:p.Thr1095=
ENST00000696031.1:c.*2809G=	ENSP00000512340.1:n.*2809G=
ENST00000696032.1:c.3291G=	ENSP00000512341.1:p.Thr1097=
ENST00000696033.1:c.1160-36188G=	ENSP00000512342.1:n.1160-36188G=
ENST00000367429.9:c.3291G= MANE Select	ENSP00000356399.4:p.Thr1097=
ENST00000367429.8:c.3291G=	ENSP00000356399.4:p.Thr1097=
ENST00000466229.5:n.6389G=
NM_000186.3:c.3291G= , LRG_47t1:c.3291G=	NP_000177.2:p.Thr1097=
XR_001737134.2:n.3477G=
NM_000186.4:c.3291G= MANE Select	NP_000177.2:p.Thr1097=