Canonical Allele Identifier: CA372290390

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 1515090
• ClinVar RCV Id: RCV002020839 ; RCV002372810
• dbSNP Id: rs1826518706
• gnomAD v4: 8-132175497-T-C
• MyVariant Identifiers: chr8:g.133187744T>C (hg19) ; chr8:g.132175497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175497T>C , CM000670.2:g.132175497T>C	GRCh38
NC_000008.10:g.133187744T>C , CM000670.1:g.133187744T>C	GRCh37
NC_000008.9:g.133256926T>C	NCBI36
NG_008854.2:g.310261A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.889A>G MANE Select	ENSP00000373648.3:p.Lys297Glu
ENST00000521134.6:c.529A>G	ENSP00000429799.1:p.Lys177Glu
ENST00000638588.1:c.562A>G	ENSP00000491940.1:p.Lys188Glu
ENST00000639358.1:c.539A>G
ENST00000639496.1:c.562A>G	ENSP00000491165.1:p.Lys188Glu
ENST00000388996.8:c.889A>G	ENSP00000373648.3:p.Lys297Glu
ENST00000519445.5:c.889A>G	ENSP00000428790.1:p.Lys297Glu
ENST00000519589.1:n.667A>G
ENST00000521134.5:c.529A>G	ENSP00000429799.1:p.Lys177Glu
ENST00000621976.1:c.526A>G	ENSP00000482510.1:p.Lys176Glu
NM_001204824.1:c.529A>G	NP_001191753.1:p.Lys177Glu
NM_004519.3:c.889A>G	NP_004510.1:p.Lys297Glu
XM_005250914.2:c.-268A>G	XP_005250971.1:n.-268A>G
XM_006716555.2:c.181A>G	XP_006716618.1:p.Lys61Glu
XM_011517026.1:c.529A>G	XP_011515328.1:p.Lys177Glu
XM_005250914.3:c.-268A>G	XP_005250971.1:n.-268A>G
XM_006716555.3:c.181A>G	XP_006716618.1:p.Lys61Glu
XM_011517026.2:c.529A>G	XP_011515328.1:p.Lys177Glu
XM_017013400.1:c.667A>G	XP_016868889.1:p.Lys223Glu
NM_004519.4:c.889A>G MANE Select	NP_004510.1:p.Lys297Glu
NM_001204824.2:c.529A>G	NP_001191753.1:p.Lys177Glu