Canonical Allele Identifier: CA6357430

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 1683231
• ClinVar RCV Id: RCV002240079 ; RCV003560878
• dbSNP Id: rs753949204
• ExAC: 11:128709252 A / C
• gnomAD v2: 11-128709252-A-C
• gnomAD v3: 11-128839357-A-C
• gnomAD v4: 11-128839357-A-C
• MyVariant Identifiers: chr11:g.128709252A>C (hg19) ; chr11:g.128839357A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839357A>C , CM000673.2:g.128839357A>C	GRCh38
NC_000011.9:g.128709252A>C , CM000673.1:g.128709252A>C	GRCh37
NC_000011.8:g.128214462A>C	NCBI36
NG_009379.1:g.33017T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.887T>G MANE Select	ENSP00000376434.1:p.Val296Gly
ENST00000324036.7:c.887T>G	ENSP00000316233.3:p.Val296Gly
ENST00000392664.2:c.944T>G	ENSP00000376432.2:p.Val315Gly
ENST00000392665.6:c.887T>G	ENSP00000376433.2:p.Val296Gly
ENST00000392666.5:c.887T>G	ENSP00000376434.1:p.Val296Gly
ENST00000440599.6:c.887T>G	ENSP00000406320.2:p.Val296Gly
NM_000220.4:c.944T>G	NP_000211.1:p.Val315Gly
NM_153764.2:c.887T>G	NP_722448.1:p.Val296Gly
NM_153765.2:c.938T>G	NP_722449.3:p.Val313Gly
NM_153766.2:c.887T>G	NP_722450.1:p.Val296Gly
NM_153767.3:c.887T>G	NP_722451.1:p.Val296Gly
NM_000220.6:c.944T>G	NP_000211.1:p.Val315Gly
NM_153764.3:c.887T>G	NP_722448.1:p.Val296Gly
NM_153765.3:c.938T>G	NP_722449.3:p.Val313Gly
NM_153766.3:c.887T>G MANE Select	NP_722450.1:p.Val296Gly
NM_153767.4:c.887T>G	NP_722451.1:p.Val296Gly