Canonical Allele Identifier: CA186223484

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 1118347
• ClinVar RCV Id: RCV001447410
• dbSNP Id: rs997018866
• gnomAD v2: 8-133187715-G-A
• gnomAD v3: 8-132175468-G-A
• gnomAD v4: 8-132175468-G-A
• COSMIC: COSM3645195
• MyVariant Identifiers: chr8:g.133187715G>A (hg19) ; chr8:g.132175468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175468G>A , CM000670.2:g.132175468G>A	GRCh38
NC_000008.10:g.133187715G>A , CM000670.1:g.133187715G>A	GRCh37
NC_000008.9:g.133256897G>A	NCBI36
NG_008854.2:g.310290C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.918C>T MANE Select	ENSP00000373648.3:p.Ala306=
ENST00000521134.6:c.558C>T	ENSP00000429799.1:p.Ala186=
ENST00000638588.1:c.591C>T	ENSP00000491940.1:p.Ala197=
ENST00000639358.1:c.568C>T
ENST00000639496.1:c.591C>T	ENSP00000491165.1:p.Ala197=
ENST00000388996.8:c.918C>T	ENSP00000373648.3:p.Ala306=
ENST00000519445.5:c.918C>T	ENSP00000428790.1:p.Ala306=
ENST00000519589.1:n.696C>T
ENST00000521134.5:c.558C>T	ENSP00000429799.1:p.Ala186=
ENST00000621976.1:c.555C>T	ENSP00000482510.1:p.Ala185=
NM_001204824.1:c.558C>T	NP_001191753.1:p.Ala186=
NM_004519.3:c.918C>T	NP_004510.1:p.Ala306=
XM_005250914.2:c.-239C>T	XP_005250971.1:n.-239C>T
XM_006716555.2:c.210C>T	XP_006716618.1:p.Ala70=
XM_011517026.1:c.558C>T	XP_011515328.1:p.Ala186=
XM_005250914.3:c.-239C>T	XP_005250971.1:n.-239C>T
XM_006716555.3:c.210C>T	XP_006716618.1:p.Ala70=
XM_011517026.2:c.558C>T	XP_011515328.1:p.Ala186=
XM_017013400.1:c.696C>T	XP_016868889.1:p.Ala232=
NM_004519.4:c.918C>T MANE Select	NP_004510.1:p.Ala306=
NM_001204824.2:c.558C>T	NP_001191753.1:p.Ala186=