Canonical Allele Identifier: CA372290415

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 967531
• ClinVar RCV Id: RCV001242469
• dbSNP Id: rs1064795142
• gnomAD v4: 8-132175508-C-A
• MyVariant Identifiers: chr8:g.133187755C>A (hg19) ; chr8:g.132175508C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.878G>T MANE Select	ENSP00000373648.3:p.Gly293Val
ENST00000521134.6:c.518G>T	ENSP00000429799.1:p.Gly173Val
ENST00000638588.1:c.551G>T	ENSP00000491940.1:p.Gly184Val
ENST00000639358.1:c.528G>T
ENST00000639496.1:c.551G>T	ENSP00000491165.1:p.Gly184Val
ENST00000388996.8:c.878G>T	ENSP00000373648.3:p.Gly293Val
ENST00000519445.5:c.878G>T	ENSP00000428790.1:p.Gly293Val
ENST00000519589.1:n.656G>T
ENST00000521134.5:c.518G>T	ENSP00000429799.1:p.Gly173Val
ENST00000621976.1:c.515G>T	ENSP00000482510.1:p.Gly172Val
NM_001204824.1:c.518G>T	NP_001191753.1:p.Gly173Val
NM_004519.3:c.878G>T	NP_004510.1:p.Gly293Val
XM_005250914.2:c.-279G>T	XP_005250971.1:n.-279G>T
XM_006716555.2:c.170G>T	XP_006716618.1:p.Gly57Val
XM_011517026.1:c.518G>T	XP_011515328.1:p.Gly173Val
XM_005250914.3:c.-279G>T	XP_005250971.1:n.-279G>T
XM_006716555.3:c.170G>T	XP_006716618.1:p.Gly57Val
XM_011517026.2:c.518G>T	XP_011515328.1:p.Gly173Val
XM_017013400.1:c.656G>T	XP_016868889.1:p.Gly219Val
NM_004519.4:c.878G>T MANE Select	NP_004510.1:p.Gly293Val
NM_001204824.2:c.518G>T	NP_001191753.1:p.Gly173Val