Canonical Allele Identifier: CA1217761758

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196727646_196727647delinsCA , CM000663.2:g.196727646_196727647delinsCA	GRCh38
NC_000001.10:g.196696776_196696777delinsCA , CM000663.1:g.196696776_196696777delinsCA	GRCh37
NC_000001.9:g.194963399_194963400delinsCA	NCBI36
NG_007259.1:g.80636_80637delinsCA , LRG_47:g.80636_80637delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.2503-700_2503-699delinsCA
ENST00000695969.1:c.2237-700_2237-699delinsCA	ENSP00000512296.1:n.2237-700_2237-699delinsCA
ENST00000695970.1:c.2237-700_2237-699delinsCA	ENSP00000512297.1:n.2237-700_2237-699delinsCA
ENST00000695971.1:c.2216-700_2216-699delinsCA	ENSP00000512298.1:n.2216-700_2216-699delinsCA
ENST00000695972.1:c.2232+710_2232+711delinsCA	ENSP00000512299.1:n.2232+710_2232+711delinsCA
ENST00000695973.1:c.*601-700_*601-699delinsCA	ENSP00000512300.1:n.*601-700_*601-699delinsCA
ENST00000695974.1:c.2060-700_2060-699delinsCA	ENSP00000512301.1:n.2060-700_2060-699delinsCA
ENST00000695975.1:c.*364-700_*364-699delinsCA	ENSP00000512302.1:n.*364-700_*364-699delinsCA
ENST00000695976.1:c.2048-700_2048-699delinsCA	ENSP00000512303.1:n.2048-700_2048-699delinsCA
ENST00000695981.1:c.2237-700_2237-699delinsCA	ENSP00000512306.1:n.2237-700_2237-699delinsCA
ENST00000695983.1:c.2237-700_2237-699delinsCA	ENSP00000512308.1:n.2237-700_2237-699delinsCA
ENST00000695984.1:c.245-700_245-699delinsCA	ENSP00000512309.1:n.245-700_245-699delinsCA
ENST00000695986.1:c.*1888-700_*1888-699delinsCA	ENSP00000512311.1:n.*1888-700_*1888-699delinsCA
ENST00000696025.1:n.2321-700_2321-699delinsCA
ENST00000696026.1:c.*519-700_*519-699delinsCA	ENSP00000512335.1:n.*519-700_*519-699delinsCA
ENST00000696027.1:c.2237-706_2237-705delinsCA	ENSP00000512336.1:n.2237-706_2237-705delinsCA
ENST00000696028.1:c.2237-700_2237-699delinsCA	ENSP00000512337.1:n.2237-700_2237-699delinsCA
ENST00000696029.1:c.2237-700_2237-699delinsCA	ENSP00000512338.1:n.2237-700_2237-699delinsCA
ENST00000696031.1:c.*1755-700_*1755-699delinsCA	ENSP00000512340.1:n.*1755-700_*1755-699delinsCA
ENST00000696032.1:c.2237-700_2237-699delinsCA	ENSP00000512341.1:n.2237-700_2237-699delinsCA
ENST00000696033.1:c.1159+38032_1159+38033delinsCA	ENSP00000512342.1:n.1159+38032_1159+38033delinsCA
ENST00000367429.9:c.2237-700_2237-699delinsCA MANE Select	ENSP00000356399.4:n.2237-700_2237-699delinsCA
ENST00000367429.8:c.2237-700_2237-699delinsCA	ENSP00000356399.4:n.2237-700_2237-699delinsCA
ENST00000466229.5:n.4253-700_4253-699delinsCA
NM_000186.3:c.2237-700_2237-699delinsCA , LRG_47t1:c.2237-700_2237-699delinsCA	NP_000177.2:n.2237-700_2237-699delinsCA
XR_001737134.2:n.2423-700_2423-699delinsCA
NM_000186.4:c.2237-700_2237-699delinsCA MANE Select	NP_000177.2:n.2237-700_2237-699delinsCA