Canonical Allele Identifier: CA372290484

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 971003
• ClinVar RCV Id: RCV001246680
• dbSNP Id: rs1586801275
• MyVariant Identifiers: chr8:g.133187786C>G (hg19) ; chr8:g.132175539C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.847G>C MANE Select	ENSP00000373648.3:p.Glu283Gln
ENST00000521134.6:c.487G>C	ENSP00000429799.1:p.Glu163Gln
ENST00000638588.1:c.520G>C	ENSP00000491940.1:p.Glu174Gln
ENST00000639358.1:c.497G>C
ENST00000639496.1:c.520G>C	ENSP00000491165.1:p.Glu174Gln
ENST00000388996.8:c.847G>C	ENSP00000373648.3:p.Glu283Gln
ENST00000519445.5:c.847G>C	ENSP00000428790.1:p.Glu283Gln
ENST00000519589.1:n.625G>C
ENST00000521134.5:c.487G>C	ENSP00000429799.1:p.Glu163Gln
ENST00000621976.1:c.484G>C	ENSP00000482510.1:p.Glu162Gln
NM_001204824.1:c.487G>C	NP_001191753.1:p.Glu163Gln
NM_004519.3:c.847G>C	NP_004510.1:p.Glu283Gln
XM_005250914.2:c.-310G>C	XP_005250971.1:n.-310G>C
XM_006716555.2:c.139G>C	XP_006716618.1:p.Glu47Gln
XM_011517026.1:c.487G>C	XP_011515328.1:p.Glu163Gln
XM_005250914.3:c.-310G>C	XP_005250971.1:n.-310G>C
XM_006716555.3:c.139G>C	XP_006716618.1:p.Glu47Gln
XM_011517026.2:c.487G>C	XP_011515328.1:p.Glu163Gln
XM_017013400.1:c.625G>C	XP_016868889.1:p.Glu209Gln
NM_004519.4:c.847G>C MANE Select	NP_004510.1:p.Glu283Gln
NM_001204824.2:c.487G>C	NP_001191753.1:p.Glu163Gln