Canonical Allele Identifier: CA1217761801

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196727679_196727680delinsCT , CM000663.2:g.196727679_196727680delinsCT	GRCh38
NC_000001.10:g.196696809_196696810delinsCT , CM000663.1:g.196696809_196696810delinsCT	GRCh37
NC_000001.9:g.194963432_194963433delinsCT	NCBI36
NG_007259.1:g.80669_80670delinsCT , LRG_47:g.80669_80670delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2503-667_2503-666delinsCT
ENST00000695969.1:c.2237-667_2237-666delinsCT	ENSP00000512296.1:n.2237-667_2237-666delinsCT
ENST00000695970.1:c.2237-667_2237-666delinsCT	ENSP00000512297.1:n.2237-667_2237-666delinsCT
ENST00000695971.1:c.2216-667_2216-666delinsCT	ENSP00000512298.1:n.2216-667_2216-666delinsCT
ENST00000695972.1:c.2232+743_2232+744delinsCT	ENSP00000512299.1:n.2232+743_2232+744delinsCT
ENST00000695973.1:c.*601-667_*601-666delinsCT	ENSP00000512300.1:n.*601-667_*601-666delinsCT
ENST00000695974.1:c.2060-667_2060-666delinsCT	ENSP00000512301.1:n.2060-667_2060-666delinsCT
ENST00000695975.1:c.*364-667_*364-666delinsCT	ENSP00000512302.1:n.*364-667_*364-666delinsCT
ENST00000695976.1:c.2048-667_2048-666delinsCT	ENSP00000512303.1:n.2048-667_2048-666delinsCT
ENST00000695981.1:c.2237-667_2237-666delinsCT	ENSP00000512306.1:n.2237-667_2237-666delinsCT
ENST00000695983.1:c.2237-667_2237-666delinsCT	ENSP00000512308.1:n.2237-667_2237-666delinsCT
ENST00000695984.1:c.245-667_245-666delinsCT	ENSP00000512309.1:n.245-667_245-666delinsCT
ENST00000695986.1:c.*1888-667_*1888-666delinsCT	ENSP00000512311.1:n.*1888-667_*1888-666delinsCT
ENST00000696025.1:n.2321-667_2321-666delinsCT
ENST00000696026.1:c.*519-667_*519-666delinsCT	ENSP00000512335.1:n.*519-667_*519-666delinsCT
ENST00000696027.1:c.2237-673_2237-672delinsCT	ENSP00000512336.1:n.2237-673_2237-672delinsCT
ENST00000696028.1:c.2237-667_2237-666delinsCT	ENSP00000512337.1:n.2237-667_2237-666delinsCT
ENST00000696029.1:c.2237-667_2237-666delinsCT	ENSP00000512338.1:n.2237-667_2237-666delinsCT
ENST00000696031.1:c.*1755-667_*1755-666delinsCT	ENSP00000512340.1:n.*1755-667_*1755-666delinsCT
ENST00000696032.1:c.2237-667_2237-666delinsCT	ENSP00000512341.1:n.2237-667_2237-666delinsCT
ENST00000696033.1:c.1159+38065_1159+38066delinsCT	ENSP00000512342.1:n.1159+38065_1159+38066delinsCT
ENST00000367429.9:c.2237-667_2237-666delinsCT MANE Select	ENSP00000356399.4:n.2237-667_2237-666delinsCT
ENST00000367429.8:c.2237-667_2237-666delinsCT	ENSP00000356399.4:n.2237-667_2237-666delinsCT
ENST00000466229.5:n.4253-667_4253-666delinsCT
NM_000186.3:c.2237-667_2237-666delinsCT , LRG_47t1:c.2237-667_2237-666delinsCT	NP_000177.2:n.2237-667_2237-666delinsCT
XR_001737134.2:n.2423-667_2423-666delinsCT
NM_000186.4:c.2237-667_2237-666delinsCT MANE Select	NP_000177.2:n.2237-667_2237-666delinsCT