Canonical Allele Identifier: CA1217770773

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747227G= , CM000663.2:g.196747227G=	GRCh38
NC_000001.10:g.196716357G= , CM000663.1:g.196716357G=	GRCh37
NC_000001.9:g.194982980G=	NCBI36
NG_007259.1:g.100217G= , LRG_47:g.100217G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4638G=
ENST00000695970.1:c.3436G=	ENSP00000512297.1:p.Gly1146=
ENST00000695971.1:c.3589G=	ENSP00000512298.1:p.Gly1197=
ENST00000695972.1:c.*687G=	ENSP00000512299.1:n.*687G=
ENST00000695973.1:c.*1974G=	ENSP00000512300.1:n.*1974G=
ENST00000695974.1:c.3433G=	ENSP00000512301.1:p.Gly1145=
ENST00000695975.1:c.*1737G=	ENSP00000512302.1:n.*1737G=
ENST00000695976.1:c.3421G=	ENSP00000512303.1:p.Gly1141=
ENST00000695981.1:c.3580+30G=	ENSP00000512306.1:n.3580+30G=
ENST00000695984.1:c.1618G=	ENSP00000512309.1:p.Gly540=
ENST00000695986.1:c.*3261G=	ENSP00000512311.1:n.*3261G=
ENST00000695990.1:n.644G=
ENST00000696026.1:c.*1892G=	ENSP00000512335.1:n.*1892G=
ENST00000696027.1:c.3604G=	ENSP00000512336.1:p.Gly1202=
ENST00000696028.1:c.3538G=	ENSP00000512337.1:p.Gly1180=
ENST00000696029.1:c.3604G=	ENSP00000512338.1:p.Gly1202=
ENST00000696031.1:c.*3128G=	ENSP00000512340.1:n.*3128G=
ENST00000696032.1:c.3580+30G=	ENSP00000512341.1:n.3580+30G=
ENST00000696033.1:c.1160-32570G=	ENSP00000512342.1:n.1160-32570G=
ENST00000367429.9:c.3610G= MANE Select	ENSP00000356399.4:p.Gly1204=
ENST00000367429.8:c.3610G=	ENSP00000356399.4:p.Gly1204=
ENST00000466229.5:n.6708G=
NM_000186.3:c.3610G= , LRG_47t1:c.3610G=	NP_000177.2:p.Gly1204=
XR_001737134.2:n.3796G=
NM_000186.4:c.3610G= MANE Select	NP_000177.2:p.Gly1204=