Canonical Allele Identifier: CA340677

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 7392
• ClinVar RCV Id: RCV000007816
• dbSNP Id: rs118192250
• MyVariant Identifiers: chr8:g.133187704C>A (hg19) ; chr8:g.132175457C>A (hg38)
• PubMed: PMID:1859177 ; PMID:9425900 ; PMID:20437616

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175457C>A , CM000670.2:g.132175457C>A	GRCh38
NC_000008.10:g.133187704C>A , CM000670.1:g.133187704C>A	GRCh37
NC_000008.9:g.133256886C>A	NCBI36
NG_008854.2:g.310301G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.929G>T MANE Select	ENSP00000373648.3:p.Gly310Val
ENST00000521134.6:c.569G>T	ENSP00000429799.1:p.Gly190Val
ENST00000638588.1:c.602G>T	ENSP00000491940.1:p.Gly201Val
ENST00000639358.1:c.579G>T
ENST00000639496.1:c.602G>T	ENSP00000491165.1:p.Gly201Val
ENST00000388996.8:c.929G>T	ENSP00000373648.3:p.Gly310Val
ENST00000519445.5:c.929G>T	ENSP00000428790.1:p.Gly310Val
ENST00000519589.1:n.707G>T
ENST00000521134.5:c.569G>T	ENSP00000429799.1:p.Gly190Val
ENST00000621976.1:c.566G>T	ENSP00000482510.1:p.Gly189Val
NM_001204824.1:c.569G>T	NP_001191753.1:p.Gly190Val
NM_004519.3:c.929G>T	NP_004510.1:p.Gly310Val
XM_005250914.2:c.-228G>T	XP_005250971.1:n.-228G>T
XM_006716555.2:c.221G>T	XP_006716618.1:p.Gly74Val
XM_011517026.1:c.569G>T	XP_011515328.1:p.Gly190Val
XM_005250914.3:c.-228G>T	XP_005250971.1:n.-228G>T
XM_006716555.3:c.221G>T	XP_006716618.1:p.Gly74Val
XM_011517026.2:c.569G>T	XP_011515328.1:p.Gly190Val
XM_017013400.1:c.707G>T	XP_016868889.1:p.Gly236Val
NM_004519.4:c.929G>T MANE Select	NP_004510.1:p.Gly310Val
NM_001204824.2:c.569G>T	NP_001191753.1:p.Gly190Val