Canonical Allele Identifier: CA372290406

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 2420107
• ClinVar RCV Id: RCV003118632
• dbSNP Id: rs750997381
• gnomAD v4: 8-132175503-C-T
• COSMIC: COSM5525128
• MyVariant Identifiers: chr8:g.133187750C>T (hg19) ; chr8:g.132175503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175503C>T , CM000670.2:g.132175503C>T	GRCh38
NC_000008.10:g.133187750C>T , CM000670.1:g.133187750C>T	GRCh37
NC_000008.9:g.133256932C>T	NCBI36
NG_008854.2:g.310255G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.883G>A MANE Select	ENSP00000373648.3:p.Glu295Lys
ENST00000521134.6:c.523G>A	ENSP00000429799.1:p.Glu175Lys
ENST00000638588.1:c.556G>A	ENSP00000491940.1:p.Glu186Lys
ENST00000639358.1:c.533G>A
ENST00000639496.1:c.556G>A	ENSP00000491165.1:p.Glu186Lys
ENST00000388996.8:c.883G>A	ENSP00000373648.3:p.Glu295Lys
ENST00000519445.5:c.883G>A	ENSP00000428790.1:p.Glu295Lys
ENST00000519589.1:n.661G>A
ENST00000521134.5:c.523G>A	ENSP00000429799.1:p.Glu175Lys
ENST00000621976.1:c.520G>A	ENSP00000482510.1:p.Glu174Lys
NM_001204824.1:c.523G>A	NP_001191753.1:p.Glu175Lys
NM_004519.3:c.883G>A	NP_004510.1:p.Glu295Lys
XM_005250914.2:c.-274G>A	XP_005250971.1:n.-274G>A
XM_006716555.2:c.175G>A	XP_006716618.1:p.Glu59Lys
XM_011517026.1:c.523G>A	XP_011515328.1:p.Glu175Lys
XM_005250914.3:c.-274G>A	XP_005250971.1:n.-274G>A
XM_006716555.3:c.175G>A	XP_006716618.1:p.Glu59Lys
XM_011517026.2:c.523G>A	XP_011515328.1:p.Glu175Lys
XM_017013400.1:c.661G>A	XP_016868889.1:p.Glu221Lys
NM_004519.4:c.883G>A MANE Select	NP_004510.1:p.Glu295Lys
NM_001204824.2:c.523G>A	NP_001191753.1:p.Glu175Lys