Canonical Allele Identifier: CA1217758401

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196724320C= , CM000663.2:g.196724320C=	GRCh38
NC_000001.10:g.196693450C= , CM000663.1:g.196693450C=	GRCh37
NC_000001.9:g.194960073C=	NCBI36
NG_007259.1:g.77310C= , LRG_47:g.77310C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1963-801C=
ENST00000695969.1:c.1697-801C=	ENSP00000512296.1:n.1697-801C=
ENST00000695970.1:c.1697-801C=	ENSP00000512297.1:n.1697-801C=
ENST00000695971.1:c.1676-801C=	ENSP00000512298.1:n.1676-801C=
ENST00000695972.1:c.1697-801C=	ENSP00000512299.1:n.1697-801C=
ENST00000695973.1:c.*61-801C=	ENSP00000512300.1:n.*61-801C=
ENST00000695974.1:c.1697-2150C=	ENSP00000512301.1:n.1697-2150C=
ENST00000695975.1:c.1697-801C=	ENSP00000512302.1:n.1697-801C=
ENST00000695976.1:c.1508-801C=	ENSP00000512303.1:n.1508-801C=
ENST00000695981.1:c.1697-801C=	ENSP00000512306.1:n.1697-801C=
ENST00000695983.1:c.1697-801C=	ENSP00000512308.1:n.1697-801C=
ENST00000695984.1:c.245-4026C=	ENSP00000512309.1:n.245-4026C=
ENST00000695986.1:c.*1348-801C=	ENSP00000512311.1:n.*1348-801C=
ENST00000696025.1:n.1781-801C=
ENST00000696026.1:c.1701-807C=	ENSP00000512335.1:n.1701-807C=
ENST00000696027.1:c.1697-801C=	ENSP00000512336.1:n.1697-801C=
ENST00000696028.1:c.1697-801C=	ENSP00000512337.1:n.1697-801C=
ENST00000696029.1:c.1697-801C=	ENSP00000512338.1:n.1697-801C=
ENST00000696031.1:c.*1215-801C=	ENSP00000512340.1:n.*1215-801C=
ENST00000696032.1:c.1697-801C=	ENSP00000512341.1:n.1697-801C=
ENST00000696033.1:c.1159+34706C=	ENSP00000512342.1:n.1159+34706C=
ENST00000367429.9:c.1697-801C= MANE Select	ENSP00000356399.4:n.1697-801C=
ENST00000367429.8:c.1697-801C=	ENSP00000356399.4:n.1697-801C=
ENST00000466229.5:n.3713-801C=
NM_000186.3:c.1697-801C= , LRG_47t1:c.1697-801C=	NP_000177.2:n.1697-801C=
XR_001737134.2:n.1883-801C=
NM_000186.4:c.1697-801C= MANE Select	NP_000177.2:n.1697-801C=