Canonical Allele Identifier: CA372290363

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 999329
• ClinVar RCV Id: RCV001295310
• dbSNP Id: rs1554627439
• MyVariant Identifiers: chr8:g.133187734A>C (hg19) ; chr8:g.132175487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175487A>C , CM000670.2:g.132175487A>C	GRCh38
NC_000008.10:g.133187734A>C , CM000670.1:g.133187734A>C	GRCh37
NC_000008.9:g.133256916A>C	NCBI36
NG_008854.2:g.310271T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.899T>G MANE Select	ENSP00000373648.3:p.Phe300Cys
ENST00000521134.6:c.539T>G	ENSP00000429799.1:p.Phe180Cys
ENST00000638588.1:c.572T>G	ENSP00000491940.1:p.Phe191Cys
ENST00000639358.1:c.549T>G
ENST00000639496.1:c.572T>G	ENSP00000491165.1:p.Phe191Cys
ENST00000388996.8:c.899T>G	ENSP00000373648.3:p.Phe300Cys
ENST00000519445.5:c.899T>G	ENSP00000428790.1:p.Phe300Cys
ENST00000519589.1:n.677T>G
ENST00000521134.5:c.539T>G	ENSP00000429799.1:p.Phe180Cys
ENST00000621976.1:c.536T>G	ENSP00000482510.1:p.Phe179Cys
NM_001204824.1:c.539T>G	NP_001191753.1:p.Phe180Cys
NM_004519.3:c.899T>G	NP_004510.1:p.Phe300Cys
XM_005250914.2:c.-258T>G	XP_005250971.1:n.-258T>G
XM_006716555.2:c.191T>G	XP_006716618.1:p.Phe64Cys
XM_011517026.1:c.539T>G	XP_011515328.1:p.Phe180Cys
XM_005250914.3:c.-258T>G	XP_005250971.1:n.-258T>G
XM_006716555.3:c.191T>G	XP_006716618.1:p.Phe64Cys
XM_011517026.2:c.539T>G	XP_011515328.1:p.Phe180Cys
XM_017013400.1:c.677T>G	XP_016868889.1:p.Phe226Cys
NM_004519.4:c.899T>G MANE Select	NP_004510.1:p.Phe300Cys
NM_001204824.2:c.539T>G	NP_001191753.1:p.Phe180Cys