Canonical Allele Identifier: CA372290539

Gene: KCNQ3

Linked Data

• dbSNP Id: rs1256382316
• gnomAD v2: 8-133187813-G-A
• gnomAD v4: 8-132175566-G-A
• COSMIC: COSM1569192
• MyVariant Identifiers: chr8:g.133187813G>A (hg19) ; chr8:g.132175566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175566G>A , CM000670.2:g.132175566G>A	GRCh38
NC_000008.10:g.133187813G>A , CM000670.1:g.133187813G>A	GRCh37
NC_000008.9:g.133256995G>A	NCBI36
NG_008854.2:g.310192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.820C>T MANE Select	ENSP00000373648.3:p.Leu274Phe
ENST00000521134.6:c.460C>T	ENSP00000429799.1:p.Leu154Phe
ENST00000638588.1:c.493C>T	ENSP00000491940.1:p.Leu165Phe
ENST00000639358.1:c.470C>T
ENST00000639496.1:c.493C>T	ENSP00000491165.1:p.Leu165Phe
ENST00000388996.8:c.820C>T	ENSP00000373648.3:p.Leu274Phe
ENST00000519445.5:c.820C>T	ENSP00000428790.1:p.Leu274Phe
ENST00000519589.1:n.598C>T
ENST00000521134.5:c.460C>T	ENSP00000429799.1:p.Leu154Phe
ENST00000621976.1:c.457C>T	ENSP00000482510.1:p.Leu153Phe
NM_001204824.1:c.460C>T	NP_001191753.1:p.Leu154Phe
NM_004519.3:c.820C>T	NP_004510.1:p.Leu274Phe
XM_005250914.2:c.-337C>T	XP_005250971.1:n.-337C>T
XM_006716555.2:c.112C>T	XP_006716618.1:p.Leu38Phe
XM_011517026.1:c.460C>T	XP_011515328.1:p.Leu154Phe
XM_005250914.3:c.-337C>T	XP_005250971.1:n.-337C>T
XM_006716555.3:c.112C>T	XP_006716618.1:p.Leu38Phe
XM_011517026.2:c.460C>T	XP_011515328.1:p.Leu154Phe
XM_017013400.1:c.598C>T	XP_016868889.1:p.Leu200Phe
NM_004519.4:c.820C>T MANE Select	NP_004510.1:p.Leu274Phe
NM_001204824.2:c.460C>T	NP_001191753.1:p.Leu154Phe