Canonical Allele Identifier: CA172320
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 158672
ClinVar RCV Id: RCV000146101 RCV000309176 RCV000339595 RCV000576636 RCV001275129 RCV001520318 RCV002226685
dbSNP Id: rs8175351
ExAC: 11:17408496 C / T
gnomAD v2: 11-17408496-C-T
gnomAD v3: 11-17386949-C-T
gnomAD v4: 11-17386949-C-T
MyVariant Identifiers: chr11:g.17408496C>T (hg19) chr11:g.17386949C>T (hg38)
PubMed: PMID:14871556 PMID:15504982 PMID:16416420 PMID:17316607 PMID:22471336 PMID:24698822 PMID:25871929
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386949C>T , CM000673.2:g.17386949C>T GRCh38
NC_000011.9:g.17408496C>T , CM000673.1:g.17408496C>T GRCh37
NC_000011.8:g.17365072C>T NCBI36
NG_012446.1:g.6711G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.882G>A ENSP00000508090.1:p.Lys294=
ENST00000682764.1:c.882G>A ENSP00000506780.1:p.Lys294=
ENST00000339994.5:c.1143G>A MANE Select ENSP00000345708.4:p.Lys381=
ENST00000339994.4:c.1143G>A ENSP00000345708.4:p.Lys381=
ENST00000528731.1:c.882G>A ENSP00000434755.1:p.Lys294=
NM_000525.3:c.1143G>A NP_000516.3:p.Lys381=
NM_001166290.1:c.882G>A NP_001159762.1:p.Lys294=
XM_006718226.2:c.882G>A XP_006718289.1:p.Lys294=
XR_930867.1:n.1301G>A
XM_006718226.3:c.882G>A XP_006718289.1:p.Lys294=
XM_017017680.1:c.882G>A XP_016873169.1:p.Lys294=
NM_001166290.2:c.882G>A NP_001159762.1:p.Lys294=
NM_001377296.1:c.882G>A NP_001364225.1:p.Lys294=
NM_001377297.1:c.882G>A NP_001364226.1:p.Lys294=
NM_000525.4:c.1143G>A MANE Select NP_000516.3:p.Lys381=
Search 100 bp 5'
Search 100 bp 3'