Canonical Allele Identifier: CA4880826

Gene: KCNQ3

Linked Data

• dbSNP Id: rs777348742
• ExAC: 8:133187775 G / T
• gnomAD v2: 8-133187775-G-T
• gnomAD v4: 8-132175528-G-T
• MyVariant Identifiers: chr8:g.133187775G>T (hg19) ; chr8:g.132175528G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175528G>T , CM000670.2:g.132175528G>T	GRCh38
NC_000008.10:g.133187775G>T , CM000670.1:g.133187775G>T	GRCh37
NC_000008.9:g.133256957G>T	NCBI36
NG_008854.2:g.310230C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.858C>A MANE Select	ENSP00000373648.3:p.Val286=
ENST00000521134.6:c.498C>A	ENSP00000429799.1:p.Val166=
ENST00000638588.1:c.531C>A	ENSP00000491940.1:p.Val177=
ENST00000639358.1:c.508C>A
ENST00000639496.1:c.531C>A	ENSP00000491165.1:p.Val177=
ENST00000388996.8:c.858C>A	ENSP00000373648.3:p.Val286=
ENST00000519445.5:c.858C>A	ENSP00000428790.1:p.Val286=
ENST00000519589.1:n.636C>A
ENST00000521134.5:c.498C>A	ENSP00000429799.1:p.Val166=
ENST00000621976.1:c.495C>A	ENSP00000482510.1:p.Val165=
NM_001204824.1:c.498C>A	NP_001191753.1:p.Val166=
NM_004519.3:c.858C>A	NP_004510.1:p.Val286=
XM_005250914.2:c.-299C>A	XP_005250971.1:n.-299C>A
XM_006716555.2:c.150C>A	XP_006716618.1:p.Val50=
XM_011517026.1:c.498C>A	XP_011515328.1:p.Val166=
XM_005250914.3:c.-299C>A	XP_005250971.1:n.-299C>A
XM_006716555.3:c.150C>A	XP_006716618.1:p.Val50=
XM_011517026.2:c.498C>A	XP_011515328.1:p.Val166=
XM_017013400.1:c.636C>A	XP_016868889.1:p.Val212=
NM_004519.4:c.858C>A MANE Select	NP_004510.1:p.Val286=
NM_001204824.2:c.498C>A	NP_001191753.1:p.Val166=