Canonical Allele Identifier: CA372290465

Gene: KCNQ3

Linked Data

• dbSNP Id: rs1826520538
• MyVariant Identifiers: chr8:g.133187779T>C (hg19) ; chr8:g.132175532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175532T>C , CM000670.2:g.132175532T>C	GRCh38
NC_000008.10:g.133187779T>C , CM000670.1:g.133187779T>C	GRCh37
NC_000008.9:g.133256961T>C	NCBI36
NG_008854.2:g.310226A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.854A>G MANE Select	ENSP00000373648.3:p.Asp285Gly
ENST00000521134.6:c.494A>G	ENSP00000429799.1:p.Asp165Gly
ENST00000638588.1:c.527A>G	ENSP00000491940.1:p.Asp176Gly
ENST00000639358.1:c.504A>G
ENST00000639496.1:c.527A>G	ENSP00000491165.1:p.Asp176Gly
ENST00000388996.8:c.854A>G	ENSP00000373648.3:p.Asp285Gly
ENST00000519445.5:c.854A>G	ENSP00000428790.1:p.Asp285Gly
ENST00000519589.1:n.632A>G
ENST00000521134.5:c.494A>G	ENSP00000429799.1:p.Asp165Gly
ENST00000621976.1:c.491A>G	ENSP00000482510.1:p.Asp164Gly
NM_001204824.1:c.494A>G	NP_001191753.1:p.Asp165Gly
NM_004519.3:c.854A>G	NP_004510.1:p.Asp285Gly
XM_005250914.2:c.-303A>G	XP_005250971.1:n.-303A>G
XM_006716555.2:c.146A>G	XP_006716618.1:p.Asp49Gly
XM_011517026.1:c.494A>G	XP_011515328.1:p.Asp165Gly
XM_005250914.3:c.-303A>G	XP_005250971.1:n.-303A>G
XM_006716555.3:c.146A>G	XP_006716618.1:p.Asp49Gly
XM_011517026.2:c.494A>G	XP_011515328.1:p.Asp165Gly
XM_017013400.1:c.632A>G	XP_016868889.1:p.Asp211Gly
NM_004519.4:c.854A>G MANE Select	NP_004510.1:p.Asp285Gly
NM_001204824.2:c.494A>G	NP_001191753.1:p.Asp165Gly