Canonical Allele Identifier: CA340807
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 8672
ClinVar RCV Id: RCV000009207 RCV001089467 RCV002051780 RCV002227027
dbSNP Id: rs80356622
MyVariant Identifiers: chr11:g.17409129C>G (hg19) chr11:g.17387582C>G (hg38)
PubMed: PMID:15580558 PMID:20301620
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387582C>G , CM000673.2:g.17387582C>G GRCh38
NC_000011.9:g.17409129C>G , CM000673.1:g.17409129C>G GRCh37
NC_000011.8:g.17365705C>G NCBI36
NG_012446.1:g.6078G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682350.1:c.249G>C ENSP00000508090.1:p.Lys83Asn
ENST00000682764.1:c.249G>C ENSP00000506780.1:p.Lys83Asn
ENST00000339994.5:c.510G>C MANE Select ENSP00000345708.4:p.Lys170Asn
ENST00000339994.4:c.510G>C ENSP00000345708.4:p.Lys170Asn
ENST00000526912.1:c.249G>C ENSP00000432729.1:p.Lys83Asn
ENST00000528731.1:c.249G>C ENSP00000434755.1:p.Lys83Asn
NM_000525.3:c.510G>C NP_000516.3:p.Lys170Asn
NM_001166290.1:c.249G>C NP_001159762.1:p.Lys83Asn
XM_006718226.2:c.249G>C XP_006718289.1:p.Lys83Asn
XR_930867.1:n.668G>C
XM_006718226.3:c.249G>C XP_006718289.1:p.Lys83Asn
XM_017017680.1:c.249G>C XP_016873169.1:p.Lys83Asn
NM_001166290.2:c.249G>C NP_001159762.1:p.Lys83Asn
NM_001377296.1:c.249G>C NP_001364225.1:p.Lys83Asn
NM_001377297.1:c.249G>C NP_001364226.1:p.Lys83Asn
NM_000525.4:c.510G>C MANE Select NP_000516.3:p.Lys170Asn
Search 100 bp 5'
Search 100 bp 3'