Canonical Allele Identifier: CA383242953

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 2794645
• ClinVar RCV Id: RCV003672960
• dbSNP Id: rs1175143767
• gnomAD v2: 11-128709129-G-T
• gnomAD v3: 11-128839234-G-T
• gnomAD v4: 11-128839234-G-T
• MyVariant Identifiers: chr11:g.128709129G>T (hg19) ; chr11:g.128839234G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839234G>T , CM000673.2:g.128839234G>T	GRCh38
NC_000011.9:g.128709129G>T , CM000673.1:g.128709129G>T	GRCh37
NC_000011.8:g.128214339G>T	NCBI36
NG_009379.1:g.33140C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.1010C>A MANE Select	ENSP00000376434.1:p.Ala337Asp
ENST00000324036.7:c.1010C>A	ENSP00000316233.3:p.Ala337Asp
ENST00000392664.2:c.1067C>A	ENSP00000376432.2:p.Ala356Asp
ENST00000392665.6:c.1010C>A	ENSP00000376433.2:p.Ala337Asp
ENST00000392666.5:c.1010C>A	ENSP00000376434.1:p.Ala337Asp
ENST00000440599.6:c.1010C>A	ENSP00000406320.2:p.Ala337Asp
NM_000220.4:c.1067C>A	NP_000211.1:p.Ala356Asp
NM_153764.2:c.1010C>A	NP_722448.1:p.Ala337Asp
NM_153765.2:c.1061C>A	NP_722449.3:p.Ala354Asp
NM_153766.2:c.1010C>A	NP_722450.1:p.Ala337Asp
NM_153767.3:c.1010C>A	NP_722451.1:p.Ala337Asp
NM_000220.6:c.1067C>A	NP_000211.1:p.Ala356Asp
NM_153764.3:c.1010C>A	NP_722448.1:p.Ala337Asp
NM_153765.3:c.1061C>A	NP_722449.3:p.Ala354Asp
NM_153766.3:c.1010C>A MANE Select	NP_722450.1:p.Ala337Asp
NM_153767.4:c.1010C>A	NP_722451.1:p.Ala337Asp