Canonical Allele Identifier: CA342039
Gene: KCNQ3 HGNC NCBI

Linked Data

ClinVar Variation Id: 21413
ClinVar RCV Id: RCV000678049
dbSNP Id: rs118192247

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175491C>T , CM000670.2:g.132175491C>T GRCh38
NC_000008.10:g.133187738C>T , CM000670.1:g.133187738C>T GRCh37
NC_000008.9:g.133256920C>T NCBI36
NG_008854.2:g.310267G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000388996.10:c.895G>A MANE Select ENSP00000373648.3:p.Glu299Lys
ENST00000521134.6:c.535G>A ENSP00000429799.1:p.Glu179Lys
ENST00000638588.1:c.568G>A ENSP00000491940.1:p.Glu190Lys
ENST00000639358.1:c.545G>A
ENST00000639496.1:c.568G>A ENSP00000491165.1:p.Glu190Lys
ENST00000388996.8:c.895G>A ENSP00000373648.3:p.Glu299Lys
ENST00000519445.5:c.895G>A ENSP00000428790.1:p.Glu299Lys
ENST00000519589.1:n.673G>A
ENST00000521134.5:c.535G>A ENSP00000429799.1:p.Glu179Lys
ENST00000621976.1:c.532G>A ENSP00000482510.1:p.Glu178Lys
NM_001204824.1:c.535G>A NP_001191753.1:p.Glu179Lys
NM_004519.3:c.895G>A NP_004510.1:p.Glu299Lys
XM_005250914.2:c.-262G>A XP_005250971.1:n.-262G>A
XM_006716555.2:c.187G>A XP_006716618.1:p.Glu63Lys
XM_011517026.1:c.535G>A XP_011515328.1:p.Glu179Lys
XM_005250914.3:c.-262G>A XP_005250971.1:n.-262G>A
XM_006716555.3:c.187G>A XP_006716618.1:p.Glu63Lys
XM_011517026.2:c.535G>A XP_011515328.1:p.Glu179Lys
XM_017013400.1:c.673G>A XP_016868889.1:p.Glu225Lys
NM_004519.4:c.895G>A MANE Select NP_004510.1:p.Glu299Lys
NM_001204824.2:c.535G>A NP_001191753.1:p.Glu179Lys