Canonical Allele Identifier: CA1217761749

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196727644_196727645delinsGA , CM000663.2:g.196727644_196727645delinsGA	GRCh38
NC_000001.10:g.196696774_196696775delinsGA , CM000663.1:g.196696774_196696775delinsGA	GRCh37
NC_000001.9:g.194963397_194963398delinsGA	NCBI36
NG_007259.1:g.80634_80635delinsGA , LRG_47:g.80634_80635delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2503-702_2503-701delinsGA
ENST00000695969.1:c.2237-702_2237-701delinsGA	ENSP00000512296.1:n.2237-702_2237-701delinsGA
ENST00000695970.1:c.2237-702_2237-701delinsGA	ENSP00000512297.1:n.2237-702_2237-701delinsGA
ENST00000695971.1:c.2216-702_2216-701delinsGA	ENSP00000512298.1:n.2216-702_2216-701delinsGA
ENST00000695972.1:c.2232+708_2232+709delinsGA	ENSP00000512299.1:n.2232+708_2232+709delinsGA
ENST00000695973.1:c.*601-702_*601-701delinsGA	ENSP00000512300.1:n.*601-702_*601-701delinsGA
ENST00000695974.1:c.2060-702_2060-701delinsGA	ENSP00000512301.1:n.2060-702_2060-701delinsGA
ENST00000695975.1:c.*364-702_*364-701delinsGA	ENSP00000512302.1:n.*364-702_*364-701delinsGA
ENST00000695976.1:c.2048-702_2048-701delinsGA	ENSP00000512303.1:n.2048-702_2048-701delinsGA
ENST00000695981.1:c.2237-702_2237-701delinsGA	ENSP00000512306.1:n.2237-702_2237-701delinsGA
ENST00000695983.1:c.2237-702_2237-701delinsGA	ENSP00000512308.1:n.2237-702_2237-701delinsGA
ENST00000695984.1:c.245-702_245-701delinsGA	ENSP00000512309.1:n.245-702_245-701delinsGA
ENST00000695986.1:c.*1888-702_*1888-701delinsGA	ENSP00000512311.1:n.*1888-702_*1888-701delinsGA
ENST00000696025.1:n.2321-702_2321-701delinsGA
ENST00000696026.1:c.*519-702_*519-701delinsGA	ENSP00000512335.1:n.*519-702_*519-701delinsGA
ENST00000696027.1:c.2236+704_2236+705delinsGA	ENSP00000512336.1:n.2236+704_2236+705delinsGA
ENST00000696028.1:c.2237-702_2237-701delinsGA	ENSP00000512337.1:n.2237-702_2237-701delinsGA
ENST00000696029.1:c.2237-702_2237-701delinsGA	ENSP00000512338.1:n.2237-702_2237-701delinsGA
ENST00000696031.1:c.*1755-702_*1755-701delinsGA	ENSP00000512340.1:n.*1755-702_*1755-701delinsGA
ENST00000696032.1:c.2237-702_2237-701delinsGA	ENSP00000512341.1:n.2237-702_2237-701delinsGA
ENST00000696033.1:c.1159+38030_1159+38031delinsGA	ENSP00000512342.1:n.1159+38030_1159+38031delinsGA
ENST00000367429.9:c.2237-702_2237-701delinsGA MANE Select	ENSP00000356399.4:n.2237-702_2237-701delinsGA
ENST00000367429.8:c.2237-702_2237-701delinsGA	ENSP00000356399.4:n.2237-702_2237-701delinsGA
ENST00000466229.5:n.4253-702_4253-701delinsGA
NM_000186.3:c.2237-702_2237-701delinsGA , LRG_47t1:c.2237-702_2237-701delinsGA	NP_000177.2:n.2237-702_2237-701delinsGA
XR_001737134.2:n.2423-702_2423-701delinsGA
NM_000186.4:c.2237-702_2237-701delinsGA MANE Select	NP_000177.2:n.2237-702_2237-701delinsGA