Canonical Allele Identifier: CA2580078584

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 2009234
• ClinVar RCV Id: RCV002838210

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175493del , CM000670.2:g.132175493del	GRCh38
NC_000008.10:g.133187740del , CM000670.1:g.133187740del	GRCh37
NC_000008.9:g.133256922del	NCBI36
NG_008854.2:g.310265del

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.893del MANE Select	ENSP00000373648.3:p.Glu298GlyfsTer14
ENST00000521134.6:c.533del	ENSP00000429799.1:p.Glu178GlyfsTer14
ENST00000638588.1:c.566del	ENSP00000491940.1:p.Glu189GlyfsTer14
ENST00000639358.1:c.543del
ENST00000639496.1:c.566del	ENSP00000491165.1:p.Glu189GlyfsTer14
ENST00000388996.8:c.893del	ENSP00000373648.3:p.Glu298GlyfsTer14
ENST00000519445.5:c.893del	ENSP00000428790.1:p.Glu298GlyfsTer14
ENST00000519589.1:n.671del
ENST00000521134.5:c.533del	ENSP00000429799.1:p.Glu178GlyfsTer14
ENST00000621976.1:c.530del	ENSP00000482510.1:p.Glu177GlyfsTer14
NM_001204824.1:c.533del	NP_001191753.1:p.Glu178GlyfsTer14
NM_004519.3:c.893del	NP_004510.1:p.Glu298GlyfsTer14
XM_005250914.2:c.-264del	XP_005250971.1:n.-264del
XM_006716555.2:c.185del	XP_006716618.1:p.Glu62GlyfsTer14
XM_011517026.1:c.533del	XP_011515328.1:p.Glu178GlyfsTer14
XM_005250914.3:c.-264del	XP_005250971.1:n.-264del
XM_006716555.3:c.185del	XP_006716618.1:p.Glu62GlyfsTer14
XM_011517026.2:c.533del	XP_011515328.1:p.Glu178GlyfsTer14
XM_017013400.1:c.671del	XP_016868889.1:p.Glu224GlyfsTer14
NM_004519.4:c.893del MANE Select	NP_004510.1:p.Glu298GlyfsTer14
NM_001204824.2:c.533del	NP_001191753.1:p.Glu178GlyfsTer14