Canonical Allele Identifier: CA6357394

Gene: KCNJ1

Linked Data

• dbSNP Id: rs778064107
• ExAC: 11:128709108 T / G
• gnomAD v2: 11-128709108-T-G
• gnomAD v3: 11-128839213-T-G
• gnomAD v4: 11-128839213-T-G
• MyVariant Identifiers: chr11:g.128709108T>G (hg19) ; chr11:g.128839213T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839213T>G , CM000673.2:g.128839213T>G	GRCh38
NC_000011.9:g.128709108T>G , CM000673.1:g.128709108T>G	GRCh37
NC_000011.8:g.128214318T>G	NCBI36
NG_009379.1:g.33161A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.1031A>C MANE Select	ENSP00000376434.1:p.Lys344Thr
ENST00000324036.7:c.1031A>C	ENSP00000316233.3:p.Lys344Thr
ENST00000392664.2:c.1088A>C	ENSP00000376432.2:p.Lys363Thr
ENST00000392665.6:c.1031A>C	ENSP00000376433.2:p.Lys344Thr
ENST00000392666.5:c.1031A>C	ENSP00000376434.1:p.Lys344Thr
ENST00000440599.6:c.1031A>C	ENSP00000406320.2:p.Lys344Thr
NM_000220.4:c.1088A>C	NP_000211.1:p.Lys363Thr
NM_153764.2:c.1031A>C	NP_722448.1:p.Lys344Thr
NM_153765.2:c.1082A>C	NP_722449.3:p.Lys361Thr
NM_153766.2:c.1031A>C	NP_722450.1:p.Lys344Thr
NM_153767.3:c.1031A>C	NP_722451.1:p.Lys344Thr
NM_000220.6:c.1088A>C	NP_000211.1:p.Lys363Thr
NM_153764.3:c.1031A>C	NP_722448.1:p.Lys344Thr
NM_153765.3:c.1082A>C	NP_722449.3:p.Lys361Thr
NM_153766.3:c.1031A>C MANE Select	NP_722450.1:p.Lys344Thr
NM_153767.4:c.1031A>C	NP_722451.1:p.Lys344Thr