Canonical Allele Identifier: CA1217761888

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196727772_196727773delinsAG , CM000663.2:g.196727772_196727773delinsAG	GRCh38
NC_000001.10:g.196696902_196696903delinsAG , CM000663.1:g.196696902_196696903delinsAG	GRCh37
NC_000001.9:g.194963525_194963526delinsAG	NCBI36
NG_007259.1:g.80762_80763delinsAG , LRG_47:g.80762_80763delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2503-574_2503-573delinsAG
ENST00000695969.1:c.2237-574_2237-573delinsAG	ENSP00000512296.1:n.2237-574_2237-573delinsAG
ENST00000695970.1:c.2237-574_2237-573delinsAG	ENSP00000512297.1:n.2237-574_2237-573delinsAG
ENST00000695971.1:c.2216-574_2216-573delinsAG	ENSP00000512298.1:n.2216-574_2216-573delinsAG
ENST00000695972.1:c.2232+836_2232+837delinsAG	ENSP00000512299.1:n.2232+836_2232+837delinsAG
ENST00000695973.1:c.*601-574_*601-573delinsAG	ENSP00000512300.1:n.*601-574_*601-573delinsAG
ENST00000695974.1:c.2060-574_2060-573delinsAG	ENSP00000512301.1:n.2060-574_2060-573delinsAG
ENST00000695975.1:c.*364-574_*364-573delinsAG	ENSP00000512302.1:n.*364-574_*364-573delinsAG
ENST00000695976.1:c.2048-574_2048-573delinsAG	ENSP00000512303.1:n.2048-574_2048-573delinsAG
ENST00000695981.1:c.2237-574_2237-573delinsAG	ENSP00000512306.1:n.2237-574_2237-573delinsAG
ENST00000695983.1:c.2237-574_2237-573delinsAG	ENSP00000512308.1:n.2237-574_2237-573delinsAG
ENST00000695984.1:c.245-574_245-573delinsAG	ENSP00000512309.1:n.245-574_245-573delinsAG
ENST00000695986.1:c.*1888-574_*1888-573delinsAG	ENSP00000512311.1:n.*1888-574_*1888-573delinsAG
ENST00000696025.1:n.2321-574_2321-573delinsAG
ENST00000696026.1:c.*519-574_*519-573delinsAG	ENSP00000512335.1:n.*519-574_*519-573delinsAG
ENST00000696027.1:c.2237-580_2237-579delinsAG	ENSP00000512336.1:n.2237-580_2237-579delinsAG
ENST00000696028.1:c.2237-574_2237-573delinsAG	ENSP00000512337.1:n.2237-574_2237-573delinsAG
ENST00000696029.1:c.2237-574_2237-573delinsAG	ENSP00000512338.1:n.2237-574_2237-573delinsAG
ENST00000696031.1:c.*1755-574_*1755-573delinsAG	ENSP00000512340.1:n.*1755-574_*1755-573delinsAG
ENST00000696032.1:c.2237-574_2237-573delinsAG	ENSP00000512341.1:n.2237-574_2237-573delinsAG
ENST00000696033.1:c.1159+38158_1159+38159delinsAG	ENSP00000512342.1:n.1159+38158_1159+38159delinsAG
ENST00000367429.9:c.2237-574_2237-573delinsAG MANE Select	ENSP00000356399.4:n.2237-574_2237-573delinsAG
ENST00000367429.8:c.2237-574_2237-573delinsAG	ENSP00000356399.4:n.2237-574_2237-573delinsAG
ENST00000466229.5:n.4253-574_4253-573delinsAG
NM_000186.3:c.2237-574_2237-573delinsAG , LRG_47t1:c.2237-574_2237-573delinsAG	NP_000177.2:n.2237-574_2237-573delinsAG
XR_001737134.2:n.2423-574_2423-573delinsAG
NM_000186.4:c.2237-574_2237-573delinsAG MANE Select	NP_000177.2:n.2237-574_2237-573delinsAG