Canonical Allele Identifier: CA383246390

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1479712998
• gnomAD v2: 11-128709873-T-C
• gnomAD v4: 11-128839978-T-C
• MyVariant Identifiers: chr11:g.128709873T>C (hg19) ; chr11:g.128839978T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839978T>C , CM000673.2:g.128839978T>C	GRCh38
NC_000011.9:g.128709873T>C , CM000673.1:g.128709873T>C	GRCh37
NC_000011.8:g.128215083T>C	NCBI36
NG_009379.1:g.32396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.266A>G MANE Select	ENSP00000376434.1:p.Asp89Gly
ENST00000324003.3:c.266A>G	ENSP00000316136.3:p.Asp89Gly
ENST00000324036.7:c.266A>G	ENSP00000316233.3:p.Asp89Gly
ENST00000392664.2:c.323A>G	ENSP00000376432.2:p.Asp108Gly
ENST00000392665.6:c.266A>G	ENSP00000376433.2:p.Asp89Gly
ENST00000392666.5:c.266A>G	ENSP00000376434.1:p.Asp89Gly
ENST00000440599.6:c.266A>G	ENSP00000406320.2:p.Asp89Gly
NM_000220.4:c.323A>G	NP_000211.1:p.Asp108Gly
NM_153764.2:c.266A>G	NP_722448.1:p.Asp89Gly
NM_153765.2:c.317A>G	NP_722449.3:p.Asp106Gly
NM_153766.2:c.266A>G	NP_722450.1:p.Asp89Gly
NM_153767.3:c.266A>G	NP_722451.1:p.Asp89Gly
NM_000220.6:c.323A>G	NP_000211.1:p.Asp108Gly
NM_153764.3:c.266A>G	NP_722448.1:p.Asp89Gly
NM_153765.3:c.317A>G	NP_722449.3:p.Asp106Gly
NM_153766.3:c.266A>G MANE Select	NP_722450.1:p.Asp89Gly
NM_153767.4:c.266A>G	NP_722451.1:p.Asp89Gly