Canonical Allele Identifier: CA383246950

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 2705732
• ClinVar RCV Id: RCV003575582
• dbSNP Id: rs1473531549
• gnomAD v2: 11-128709966-C-T
• gnomAD v3: 11-128840071-C-T
• gnomAD v4: 11-128840071-C-T
• MyVariant Identifiers: chr11:g.128709966C>T (hg19) ; chr11:g.128840071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840071C>T , CM000673.2:g.128840071C>T	GRCh38
NC_000011.9:g.128709966C>T , CM000673.1:g.128709966C>T	GRCh37
NC_000011.8:g.128215176C>T	NCBI36
NG_009379.1:g.32303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.173G>A MANE Select	ENSP00000376434.1:p.Trp58Ter
ENST00000324003.3:c.173G>A	ENSP00000316136.3:p.Trp58Ter
ENST00000324036.7:c.173G>A	ENSP00000316233.3:p.Trp58Ter
ENST00000392664.2:c.230G>A	ENSP00000376432.2:p.Trp77Ter
ENST00000392665.6:c.173G>A	ENSP00000376433.2:p.Trp58Ter
ENST00000392666.5:c.173G>A	ENSP00000376434.1:p.Trp58Ter
ENST00000440599.6:c.173G>A	ENSP00000406320.2:p.Trp58Ter
ENST00000531562.1:n.518G>A
NM_000220.4:c.230G>A	NP_000211.1:p.Trp77Ter
NM_153764.2:c.173G>A	NP_722448.1:p.Trp58Ter
NM_153765.2:c.224G>A	NP_722449.3:p.Trp75Ter
NM_153766.2:c.173G>A	NP_722450.1:p.Trp58Ter
NM_153767.3:c.173G>A	NP_722451.1:p.Trp58Ter
NM_000220.6:c.230G>A	NP_000211.1:p.Trp77Ter
NM_153764.3:c.173G>A	NP_722448.1:p.Trp58Ter
NM_153765.3:c.224G>A	NP_722449.3:p.Trp75Ter
NM_153766.3:c.173G>A MANE Select	NP_722450.1:p.Trp58Ter
NM_153767.4:c.173G>A	NP_722451.1:p.Trp58Ter