Canonical Allele Identifier: CA16618601

Gene: KCNQ3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175508C>T , CM000670.2:g.132175508C>T	GRCh38
NC_000008.10:g.133187755C>T , CM000670.1:g.133187755C>T	GRCh37
NC_000008.9:g.133256937C>T	NCBI36
NG_008854.2:g.310250G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004519.4:c.878G>A MANE Select	NP_004510.1:p.Gly293Glu
ENST00000388996.10:c.878G>A MANE Select	ENSP00000373648.3:p.Gly293Glu
NM_001204824.1:c.518G>A	NP_001191753.1:p.Gly173Glu
NM_001204824.2:c.518G>A	NP_001191753.1:p.Gly173Glu
NM_004519.3:c.878G>A	NP_004510.1:p.Gly293Glu
ENST00000388996.8:c.878G>A	ENSP00000373648.3:p.Gly293Glu
ENST00000519445.5:c.878G>A	ENSP00000428790.1:p.Gly293Glu
ENST00000519589.1:n.656G>A
ENST00000521134.5:c.518G>A	ENSP00000429799.1:p.Gly173Glu
ENST00000521134.6:c.518G>A	ENSP00000429799.1:p.Gly173Glu
ENST00000621976.1:c.515G>A	ENSP00000482510.1:p.Gly172Glu
ENST00000638588.1:c.551G>A	ENSP00000491940.1:p.Gly184Glu
ENST00000639358.1:c.528G>A
ENST00000639496.1:c.551G>A	ENSP00000491165.1:p.Gly184Glu
XM_005250914.2:c.-279G>A	XP_005250971.1:n.-279G>A
XM_005250914.3:c.-279G>A	XP_005250971.1:n.-279G>A
XM_006716555.2:c.170G>A	XP_006716618.1:p.Gly57Glu
XM_006716555.3:c.170G>A	XP_006716618.1:p.Gly57Glu
XM_011517026.1:c.518G>A	XP_011515328.1:p.Gly173Glu
XM_011517026.2:c.518G>A	XP_011515328.1:p.Gly173Glu
XM_017013400.1:c.656G>A	XP_016868889.1:p.Gly219Glu