Canonical Allele Identifier: CA528266255

Gene: CFH

Linked Data

• dbSNP Id: rs1416161217
• gnomAD v2: 1-196696903-G-GGCCCTCTA
• MyVariant Identifiers: chr1:g.196696903_196696904insGCCCTCTA (hg19) ; chr1:g.196727773_196727774insGCCCTCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196727774_196727781dup , CM000663.2:g.196727774_196727781dup	GRCh38
NC_000001.10:g.196696904_196696911dup , CM000663.1:g.196696904_196696911dup	GRCh37
NC_000001.9:g.194963527_194963534dup	NCBI36
NG_007259.1:g.80764_80771dup , LRG_47:g.80764_80771dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.2503-572_2503-565dup
ENST00000695969.1:c.2237-572_2237-565dup	ENSP00000512296.1:n.2237-572_2237-565dup
ENST00000695970.1:c.2237-572_2237-565dup	ENSP00000512297.1:n.2237-572_2237-565dup
ENST00000695971.1:c.2216-572_2216-565dup	ENSP00000512298.1:n.2216-572_2216-565dup
ENST00000695972.1:c.2232+838_2232+845dup	ENSP00000512299.1:n.2232+838_2232+845dup
ENST00000695973.1:c.*601-572_*601-565dup	ENSP00000512300.1:n.*601-572_*601-565dup
ENST00000695974.1:c.2060-572_2060-565dup	ENSP00000512301.1:n.2060-572_2060-565dup
ENST00000695975.1:c.*364-572_*364-565dup	ENSP00000512302.1:n.*364-572_*364-565dup
ENST00000695976.1:c.2048-572_2048-565dup	ENSP00000512303.1:n.2048-572_2048-565dup
ENST00000695981.1:c.2237-572_2237-565dup	ENSP00000512306.1:n.2237-572_2237-565dup
ENST00000695983.1:c.2237-572_2237-565dup	ENSP00000512308.1:n.2237-572_2237-565dup
ENST00000695984.1:c.245-572_245-565dup	ENSP00000512309.1:n.245-572_245-565dup
ENST00000695986.1:c.*1888-572_*1888-565dup	ENSP00000512311.1:n.*1888-572_*1888-565dup
ENST00000696025.1:n.2321-572_2321-565dup
ENST00000696026.1:c.*519-572_*519-565dup	ENSP00000512335.1:n.*519-572_*519-565dup
ENST00000696027.1:c.2237-578_2237-571dup	ENSP00000512336.1:n.2237-578_2237-571dup
ENST00000696028.1:c.2237-572_2237-565dup	ENSP00000512337.1:n.2237-572_2237-565dup
ENST00000696029.1:c.2237-572_2237-565dup	ENSP00000512338.1:n.2237-572_2237-565dup
ENST00000696031.1:c.*1755-572_*1755-565dup	ENSP00000512340.1:n.*1755-572_*1755-565dup
ENST00000696032.1:c.2237-572_2237-565dup	ENSP00000512341.1:n.2237-572_2237-565dup
ENST00000696033.1:c.1159+38160_1159+38167dup	ENSP00000512342.1:n.1159+38160_1159+38167dup
ENST00000367429.9:c.2237-572_2237-565dup MANE Select	ENSP00000356399.4:n.2237-572_2237-565dup
ENST00000367429.8:c.2237-572_2237-565dup	ENSP00000356399.4:n.2237-572_2237-565dup
ENST00000466229.5:n.4253-572_4253-565dup
NM_000186.3:c.2237-572_2237-565dup , LRG_47t1:c.2237-572_2237-565dup	NP_000177.2:n.2237-572_2237-565dup
XR_001737134.2:n.2423-572_2423-565dup
NM_000186.4:c.2237-572_2237-565dup MANE Select	NP_000177.2:n.2237-572_2237-565dup