Canonical Allele Identifier: CA372290483

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 663040
• ClinVar RCV Id: RCV000820822
• dbSNP Id: rs1586801275
• gnomAD v4: 8-132175539-C-T
• MyVariant Identifiers: chr8:g.133187786C>T (hg19) ; chr8:g.132175539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175539C>T , CM000670.2:g.132175539C>T	GRCh38
NC_000008.10:g.133187786C>T , CM000670.1:g.133187786C>T	GRCh37
NC_000008.9:g.133256968C>T	NCBI36
NG_008854.2:g.310219G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.847G>A MANE Select	ENSP00000373648.3:p.Glu283Lys
ENST00000521134.6:c.487G>A	ENSP00000429799.1:p.Glu163Lys
ENST00000638588.1:c.520G>A	ENSP00000491940.1:p.Glu174Lys
ENST00000639358.1:c.497G>A
ENST00000639496.1:c.520G>A	ENSP00000491165.1:p.Glu174Lys
ENST00000388996.8:c.847G>A	ENSP00000373648.3:p.Glu283Lys
ENST00000519445.5:c.847G>A	ENSP00000428790.1:p.Glu283Lys
ENST00000519589.1:n.625G>A
ENST00000521134.5:c.487G>A	ENSP00000429799.1:p.Glu163Lys
ENST00000621976.1:c.484G>A	ENSP00000482510.1:p.Glu162Lys
NM_001204824.1:c.487G>A	NP_001191753.1:p.Glu163Lys
NM_004519.3:c.847G>A	NP_004510.1:p.Glu283Lys
XM_005250914.2:c.-310G>A	XP_005250971.1:n.-310G>A
XM_006716555.2:c.139G>A	XP_006716618.1:p.Glu47Lys
XM_011517026.1:c.487G>A	XP_011515328.1:p.Glu163Lys
XM_005250914.3:c.-310G>A	XP_005250971.1:n.-310G>A
XM_006716555.3:c.139G>A	XP_006716618.1:p.Glu47Lys
XM_011517026.2:c.487G>A	XP_011515328.1:p.Glu163Lys
XM_017013400.1:c.625G>A	XP_016868889.1:p.Glu209Lys
NM_004519.4:c.847G>A MANE Select	NP_004510.1:p.Glu283Lys
NM_001204824.2:c.487G>A	NP_001191753.1:p.Glu163Lys