Canonical Allele Identifier: CA341718
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 21196
ClinVar RCV Id: RCV000020348 RCV002227044
dbSNP Id: rs193929337
MyVariant Identifiers: chr11:g.17409484T>C (hg19) chr11:g.17387937T>C (hg38)
PubMed: PMID:20301620
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387937T>C , CM000673.2:g.17387937T>C GRCh38
NC_000011.9:g.17409484T>C , CM000673.1:g.17409484T>C GRCh37
NC_000011.8:g.17366060T>C NCBI36
NG_012446.1:g.5723A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000528992.2:c.-74A>G ENSP00000436479.2:n.-74A>G
ENST00000682350.1:c.-16-91A>G ENSP00000508090.1:n.-16-91A>G
ENST00000682764.1:c.-16-91A>G ENSP00000506780.1:n.-16-91A>G
ENST00000339994.5:c.155A>G MANE Select ENSP00000345708.4:p.Gln52Arg
ENST00000339994.4:c.155A>G ENSP00000345708.4:p.Gln52Arg
ENST00000526912.1:c.-17+81A>G ENSP00000432729.1:n.-17+81A>G
ENST00000528731.1:c.-16-91A>G ENSP00000434755.1:n.-16-91A>G
ENST00000528992.1:c.172A>G
NM_000525.3:c.155A>G NP_000516.3:p.Gln52Arg
NM_001166290.1:c.-16-91A>G NP_001159762.1:n.-16-91A>G
XM_006718226.2:c.-16-91A>G XP_006718289.1:n.-16-91A>G
XR_930867.1:n.313A>G
XM_006718226.3:c.-16-91A>G XP_006718289.1:n.-16-91A>G
XM_017017680.1:c.-16-91A>G XP_016873169.1:n.-16-91A>G
NM_001166290.2:c.-16-91A>G NP_001159762.1:n.-16-91A>G
NM_001377296.1:c.-17+81A>G NP_001364225.1:n.-17+81A>G
NM_001377297.1:c.-16-91A>G NP_001364226.1:n.-16-91A>G
NM_000525.4:c.155A>G MANE Select NP_000516.3:p.Gln52Arg
Search 100 bp 5'
Search 100 bp 3'