Canonical Allele Identifier: CA372290181

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 1684826
• ClinVar RCV Id: RCV002247918
• dbSNP Id: rs1326172406
• gnomAD v4: 8-132174306-G-T
• MyVariant Identifiers: chr8:g.133186553G>T (hg19) ; chr8:g.132174306G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174306G>T , CM000670.2:g.132174306G>T	GRCh38
NC_000008.10:g.133186553G>T , CM000670.1:g.133186553G>T	GRCh37
NC_000008.9:g.133255735G>T	NCBI36
NG_008854.2:g.311452C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.977C>A MANE Select	ENSP00000373648.3:p.Thr326Lys
ENST00000521134.6:c.617C>A	ENSP00000429799.1:p.Thr206Lys
ENST00000638588.1:c.650C>A	ENSP00000491940.1:p.Thr217Lys
ENST00000639358.1:c.627C>A
ENST00000639496.1:c.650C>A	ENSP00000491165.1:p.Thr217Lys
ENST00000388996.8:c.977C>A	ENSP00000373648.3:p.Thr326Lys
ENST00000519445.5:c.977C>A	ENSP00000428790.1:p.Thr326Lys
ENST00000519589.1:n.755C>A
ENST00000521134.5:c.617C>A	ENSP00000429799.1:p.Thr206Lys
ENST00000621976.1:c.614C>A	ENSP00000482510.1:p.Thr205Lys
NM_001204824.1:c.617C>A	NP_001191753.1:p.Thr206Lys
NM_004519.3:c.977C>A	NP_004510.1:p.Thr326Lys
XM_005250914.2:c.-180C>A	XP_005250971.1:n.-180C>A
XM_006716555.2:c.269C>A	XP_006716618.1:p.Thr90Lys
XM_011517026.1:c.617C>A	XP_011515328.1:p.Thr206Lys
XM_005250914.3:c.-180C>A	XP_005250971.1:n.-180C>A
XM_006716555.3:c.269C>A	XP_006716618.1:p.Thr90Lys
XM_011517026.2:c.617C>A	XP_011515328.1:p.Thr206Lys
XM_017013400.1:c.755C>A	XP_016868889.1:p.Thr252Lys
NM_004519.4:c.977C>A MANE Select	NP_004510.1:p.Thr326Lys
NM_001204824.2:c.617C>A	NP_001191753.1:p.Thr206Lys