Canonical Allele Identifier: CA4880824

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 1937635
• ClinVar RCV Id: RCV002653363
• dbSNP Id: rs749655951
• ExAC: 8:133187768 C / T
• gnomAD v2: 8-133187768-C-T
• gnomAD v3: 8-132175521-C-T
• gnomAD v4: 8-132175521-C-T
• MyVariant Identifiers: chr8:g.133187768C>T (hg19) ; chr8:g.132175521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175521C>T , CM000670.2:g.132175521C>T	GRCh38
NC_000008.10:g.133187768C>T , CM000670.1:g.133187768C>T	GRCh37
NC_000008.9:g.133256950C>T	NCBI36
NG_008854.2:g.310237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.865G>A MANE Select	ENSP00000373648.3:p.Val289Met
ENST00000521134.6:c.505G>A	ENSP00000429799.1:p.Val169Met
ENST00000638588.1:c.538G>A	ENSP00000491940.1:p.Val180Met
ENST00000639358.1:c.515G>A
ENST00000639496.1:c.538G>A	ENSP00000491165.1:p.Val180Met
ENST00000388996.8:c.865G>A	ENSP00000373648.3:p.Val289Met
ENST00000519445.5:c.865G>A	ENSP00000428790.1:p.Val289Met
ENST00000519589.1:n.643G>A
ENST00000521134.5:c.505G>A	ENSP00000429799.1:p.Val169Met
ENST00000621976.1:c.502G>A	ENSP00000482510.1:p.Val168Met
NM_001204824.1:c.505G>A	NP_001191753.1:p.Val169Met
NM_004519.3:c.865G>A	NP_004510.1:p.Val289Met
XM_005250914.2:c.-292G>A	XP_005250971.1:n.-292G>A
XM_006716555.2:c.157G>A	XP_006716618.1:p.Val53Met
XM_011517026.1:c.505G>A	XP_011515328.1:p.Val169Met
XM_005250914.3:c.-292G>A	XP_005250971.1:n.-292G>A
XM_006716555.3:c.157G>A	XP_006716618.1:p.Val53Met
XM_011517026.2:c.505G>A	XP_011515328.1:p.Val169Met
XM_017013400.1:c.643G>A	XP_016868889.1:p.Val215Met
NM_004519.4:c.865G>A MANE Select	NP_004510.1:p.Val289Met
NM_001204824.2:c.505G>A	NP_001191753.1:p.Val169Met