Canonical Allele Identifier: CA114049
Gene: KCNJ18 HGNC NCBI

Linked Data

ClinVar Variation Id: 205
ClinVar RCV Id: RCV000000229
dbSNP Id: rs527236158
gnomAD v3: 17-21703847-C-T
gnomAD v4: 17-21703847-C-T
MyVariant Identifiers: chr17:g.21703847C>T (hg38)
PubMed: PMID:20074522 PMID:20301512
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.21703847C>T , CM000679.2:g.21703847C>T GRCh38
NG_033093.1:g.16325C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000567955.3:c.1061C>T MANE Select ENSP00000457807.2:p.Thr354Met
NM_001194958.2:c.1061C>T MANE Select NP_001181887.2:p.Thr354Met
XM_005276919.2:c.1367C>T XP_005276976.1:p.Thr456Met
XM_005276919.3:c.1367C>T XP_005276976.1:p.Thr456Met
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