Canonical Allele Identifier: CA10630277
Gene: KCNQ3 HGNC NCBI

Linked Data

ClinVar Variation Id: 361898
ClinVar RCV Id: RCV000285110 RCV000324055 RCV002292442
dbSNP Id: rs886062698
gnomAD v2: 8-133492926-C-CCA
gnomAD v3: 8-132480679-C-CCA
gnomAD v4: 8-132480679-C-CCA
MyVariant Identifiers: chr8:g.133492926_133492927insCA (hg19) chr8:g.133492927_133492945delinsCAAAAAGCAGGCAAAGGCGGG (hg19) chr8:g.132480679_132480680insCA (hg38) chr8:g.132480680_132480698delinsCAAAAAGCAGGCAAAGGCGGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132480679_132480680insCA , CM000670.2:g.132480679_132480680insCA GRCh38
NC_000008.10:g.133492926_133492927insCA , CM000670.1:g.133492926_133492927insCA GRCh37
NC_000008.9:g.133562108_133562109insCA NCBI36
NG_008854.2:g.5078_5079insTG

Transcript Alleles

HGVS Amino-acid change
ENST00000388996.10:c.-148_-147insTG MANE Select ENSP00000373648.3:n.-148_-147insTG
ENST00000388996.8:c.-148_-147insTG ENSP00000373648.3:n.-148_-147insTG
NM_004519.3:c.-148_-147insTG NP_004510.1:n.-148_-147insTG
NM_004519.4:c.-148_-147insTG MANE Select NP_004510.1:n.-148_-147insTG
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