Canonical Allele Identifier: CA383246128

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 591731
• ClinVar RCV Id: RCV000722912
• dbSNP Id: rs1565522472
• gnomAD v4: 11-128839939-C-T
• MyVariant Identifiers: chr11:g.128709834C>T (hg19) ; chr11:g.128839939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839939C>T , CM000673.2:g.128839939C>T	GRCh38
NC_000011.9:g.128709834C>T , CM000673.1:g.128709834C>T	GRCh37
NC_000011.8:g.128215044C>T	NCBI36
NG_009379.1:g.32435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.305G>A MANE Select	ENSP00000376434.1:p.Cys102Tyr
ENST00000324003.3:c.305G>A	ENSP00000316136.3:p.Cys102Tyr
ENST00000324036.7:c.305G>A	ENSP00000316233.3:p.Cys102Tyr
ENST00000392664.2:c.362G>A	ENSP00000376432.2:p.Cys121Tyr
ENST00000392665.6:c.305G>A	ENSP00000376433.2:p.Cys102Tyr
ENST00000392666.5:c.305G>A	ENSP00000376434.1:p.Cys102Tyr
ENST00000440599.6:c.305G>A	ENSP00000406320.2:p.Cys102Tyr
NM_000220.4:c.362G>A	NP_000211.1:p.Cys121Tyr
NM_153764.2:c.305G>A	NP_722448.1:p.Cys102Tyr
NM_153765.2:c.356G>A	NP_722449.3:p.Cys119Tyr
NM_153766.2:c.305G>A	NP_722450.1:p.Cys102Tyr
NM_153767.3:c.305G>A	NP_722451.1:p.Cys102Tyr
NM_000220.6:c.362G>A	NP_000211.1:p.Cys121Tyr
NM_153764.3:c.305G>A	NP_722448.1:p.Cys102Tyr
NM_153765.3:c.356G>A	NP_722449.3:p.Cys119Tyr
NM_153766.3:c.305G>A MANE Select	NP_722450.1:p.Cys102Tyr
NM_153767.4:c.305G>A	NP_722451.1:p.Cys102Tyr