Canonical Allele Identifier: CA6357560

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 2823855
• ClinVar RCV Id: RCV003685915
• dbSNP Id: rs780333280
• ExAC: 11:128709980 T / C
• gnomAD v2: 11-128709980-T-C
• gnomAD v3: 11-128840085-T-C
• gnomAD v4: 11-128840085-T-C
• MyVariant Identifiers: chr11:g.128709980T>C (hg19) ; chr11:g.128840085T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840085T>C , CM000673.2:g.128840085T>C	GRCh38
NC_000011.9:g.128709980T>C , CM000673.1:g.128709980T>C	GRCh37
NC_000011.8:g.128215190T>C	NCBI36
NG_009379.1:g.32289A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.159A>G MANE Select	ENSP00000376434.1:p.Val53=
ENST00000324003.3:c.159A>G	ENSP00000316136.3:p.Val53=
ENST00000324036.7:c.159A>G	ENSP00000316233.3:p.Val53=
ENST00000392664.2:c.216A>G	ENSP00000376432.2:p.Val72=
ENST00000392665.6:c.159A>G	ENSP00000376433.2:p.Val53=
ENST00000392666.5:c.159A>G	ENSP00000376434.1:p.Val53=
ENST00000440599.6:c.159A>G	ENSP00000406320.2:p.Val53=
ENST00000531562.1:n.504A>G
NM_000220.4:c.216A>G	NP_000211.1:p.Val72=
NM_153764.2:c.159A>G	NP_722448.1:p.Val53=
NM_153765.2:c.210A>G	NP_722449.3:p.Val70=
NM_153766.2:c.159A>G	NP_722450.1:p.Val53=
NM_153767.3:c.159A>G	NP_722451.1:p.Val53=
NM_000220.6:c.216A>G	NP_000211.1:p.Val72=
NM_153764.3:c.159A>G	NP_722448.1:p.Val53=
NM_153765.3:c.210A>G	NP_722449.3:p.Val70=
NM_153766.3:c.159A>G MANE Select	NP_722450.1:p.Val53=
NM_153767.4:c.159A>G	NP_722451.1:p.Val53=