Canonical Allele Identifier: CA340677
Gene: KCNQ3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7392
ClinVar RCV Id: RCV000007816
dbSNP Id: rs118192250

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175457C>A , CM000670.2:g.132175457C>A GRCh38
NC_000008.10:g.133187704C>A , CM000670.1:g.133187704C>A GRCh37
NC_000008.9:g.133256886C>A NCBI36
NG_008854.2:g.310301G>T

Transcript Alleles

HGVS Amino-acid change
NM_001204824.1:c.569G>T VV NP_001191753.1:p.Gly190Val
NM_004519.3:c.929G>T VV NP_004510.1:p.Gly310Val
XM_005250914.2:c.-228G>T XP_005250971.1:p.=
XM_006716555.2:c.221G>T XP_006716618.1:p.Gly74Val
XM_011517026.1:c.569G>T XP_011515328.1:p.Gly190Val
XM_005250914.3:c.-228G>T
XM_006716555.3:c.221G>T
XM_011517026.2:c.569G>T
XM_017013400.1:c.707G>T XP_016868889.1:p.Gly236Val
ENST00000388996.8:c.929G>T ENSP00000373648.3:p.Gly310Val
ENST00000519445.5:c.929G>T ENSP00000428790.1:p.Gly310Val
ENST00000519589.1:n.707G>T
ENST00000521134.5:c.569G>T ENSP00000429799.1:p.Gly190Val
ENST00000621976.1:n.566G>T ENSP00000482510.1:p.Gly189Val