Canonical Allele Identifier: CA4880804

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 1645559
• ClinVar RCV Id: RCV002148578 ; RCV002382433
• dbSNP Id: rs751628183
• ExAC: 8:133186552 C / T
• gnomAD v2: 8-133186552-C-T
• gnomAD v3: 8-132174305-C-T
• gnomAD v4: 8-132174305-C-T
• COSMIC: COSM5501911
• MyVariant Identifiers: chr8:g.133186552C>T (hg19) ; chr8:g.132174305C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174305C>T , CM000670.2:g.132174305C>T	GRCh38
NC_000008.10:g.133186552C>T , CM000670.1:g.133186552C>T	GRCh37
NC_000008.9:g.133255734C>T	NCBI36
NG_008854.2:g.311453G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.978G>A MANE Select	ENSP00000373648.3:p.Thr326=
ENST00000521134.6:c.618G>A	ENSP00000429799.1:p.Thr206=
ENST00000638588.1:c.651G>A	ENSP00000491940.1:p.Thr217=
ENST00000639358.1:c.628G>A
ENST00000639496.1:c.651G>A	ENSP00000491165.1:p.Thr217=
ENST00000388996.8:c.978G>A	ENSP00000373648.3:p.Thr326=
ENST00000519445.5:c.978G>A	ENSP00000428790.1:p.Thr326=
ENST00000519589.1:n.756G>A
ENST00000521134.5:c.618G>A	ENSP00000429799.1:p.Thr206=
ENST00000621976.1:c.615G>A	ENSP00000482510.1:p.Thr205=
NM_001204824.1:c.618G>A	NP_001191753.1:p.Thr206=
NM_004519.3:c.978G>A	NP_004510.1:p.Thr326=
XM_005250914.2:c.-179G>A	XP_005250971.1:n.-179G>A
XM_006716555.2:c.270G>A	XP_006716618.1:p.Thr90=
XM_011517026.1:c.618G>A	XP_011515328.1:p.Thr206=
XM_005250914.3:c.-179G>A	XP_005250971.1:n.-179G>A
XM_006716555.3:c.270G>A	XP_006716618.1:p.Thr90=
XM_011517026.2:c.618G>A	XP_011515328.1:p.Thr206=
XM_017013400.1:c.756G>A	XP_016868889.1:p.Thr252=
NM_004519.4:c.978G>A MANE Select	NP_004510.1:p.Thr326=
NM_001204824.2:c.618G>A	NP_001191753.1:p.Thr206=