Canonical Allele Identifier: CA1143537122

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747197G= , CM000663.2:g.196747197G=	GRCh38
NC_000001.10:g.196716327G= , CM000663.1:g.196716327G=	GRCh37
NC_000001.9:g.194982950G=	NCBI36
NG_007259.1:g.100187G= , LRG_47:g.100187G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4608G=
ENST00000695970.1:c.3406G=	ENSP00000512297.1:p.Gly1136=
ENST00000695971.1:c.3559G=	ENSP00000512298.1:p.Gly1187=
ENST00000695972.1:c.*657G=	ENSP00000512299.1:n.*657G=
ENST00000695973.1:c.*1944G=	ENSP00000512300.1:n.*1944G=
ENST00000695974.1:c.3403G=	ENSP00000512301.1:p.Gly1135=
ENST00000695975.1:c.*1707G=	ENSP00000512302.1:n.*1707G=
ENST00000695976.1:c.3391G=	ENSP00000512303.1:p.Gly1131=
ENST00000695981.1:c.3580G=	ENSP00000512306.1:p.Glu1194=
ENST00000695984.1:c.1588G=	ENSP00000512309.1:p.Gly530=
ENST00000695986.1:c.*3231G=	ENSP00000512311.1:n.*3231G=
ENST00000695990.1:n.614G=
ENST00000696026.1:c.*1862G=	ENSP00000512335.1:n.*1862G=
ENST00000696027.1:c.3574G=	ENSP00000512336.1:p.Gly1192=
ENST00000696028.1:c.3508G=	ENSP00000512337.1:p.Gly1170=
ENST00000696029.1:c.3574G=	ENSP00000512338.1:p.Gly1192=
ENST00000696031.1:c.*3098G=	ENSP00000512340.1:n.*3098G=
ENST00000696032.1:c.3580G=	ENSP00000512341.1:p.Val1194=
ENST00000696033.1:c.1160-32600G=	ENSP00000512342.1:n.1160-32600G=
ENST00000367429.9:c.3580G= MANE Select	ENSP00000356399.4:p.Gly1194=
ENST00000367429.8:c.3580G=	ENSP00000356399.4:p.Gly1194=
ENST00000466229.5:n.6678G=
NM_000186.3:c.3580G= , LRG_47t1:c.3580G=	NP_000177.2:p.Gly1194=
XR_001737134.2:n.3766G=
NM_000186.4:c.3580G= MANE Select	NP_000177.2:p.Gly1194=