Canonical Allele Identifier: CA1217770790

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747273G= , CM000663.2:g.196747273G=	GRCh38
NC_000001.10:g.196716403G= , CM000663.1:g.196716403G=	GRCh37
NC_000001.9:g.194983026G=	NCBI36
NG_007259.1:g.100263G= , LRG_47:g.100263G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4684G=
ENST00000695970.1:c.3482G=	ENSP00000512297.1:p.Trp1161=
ENST00000695971.1:c.3635G=	ENSP00000512298.1:p.Trp1212=
ENST00000695972.1:c.*733G=	ENSP00000512299.1:n.*733G=
ENST00000695973.1:c.*2020G=	ENSP00000512300.1:n.*2020G=
ENST00000695974.1:c.3479G=	ENSP00000512301.1:p.Trp1160=
ENST00000695975.1:c.*1783G=	ENSP00000512302.1:n.*1783G=
ENST00000695976.1:c.3467G=	ENSP00000512303.1:p.Trp1156=
ENST00000695981.1:c.3580+76G=	ENSP00000512306.1:n.3580+76G=
ENST00000695984.1:c.1664G=	ENSP00000512309.1:p.Trp555=
ENST00000695986.1:c.*3307G=	ENSP00000512311.1:n.*3307G=
ENST00000695990.1:n.690G=
ENST00000696026.1:c.*1938G=	ENSP00000512335.1:n.*1938G=
ENST00000696027.1:c.3650G=	ENSP00000512336.1:p.Trp1217=
ENST00000696028.1:c.3584G=	ENSP00000512337.1:p.Trp1195=
ENST00000696029.1:c.3650G=	ENSP00000512338.1:p.Trp1217=
ENST00000696031.1:c.*3174G=	ENSP00000512340.1:n.*3174G=
ENST00000696032.1:c.3580+76G=	ENSP00000512341.1:n.3580+76G=
ENST00000696033.1:c.1160-32524G=	ENSP00000512342.1:n.1160-32524G=
ENST00000367429.9:c.3656G= MANE Select	ENSP00000356399.4:p.Trp1219=
ENST00000367429.8:c.3656G=	ENSP00000356399.4:p.Trp1219=
ENST00000466229.5:n.6754G=
NM_000186.3:c.3656G= , LRG_47t1:c.3656G=	NP_000177.2:p.Trp1219=
XR_001737134.2:n.3842G=
NM_000186.4:c.3656G= MANE Select	NP_000177.2:p.Trp1219=