Canonical Allele Identifier: CA315595

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 205964
• ClinVar RCV Id: RCV000187969
• dbSNP Id: rs796052677
• MyVariant Identifiers: chr8:g.133187836T>C (hg19) ; chr8:g.132175589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175589T>C , CM000670.2:g.132175589T>C	GRCh38
NC_000008.10:g.133187836T>C , CM000670.1:g.133187836T>C	GRCh37
NC_000008.9:g.133257018T>C	NCBI36
NG_008854.2:g.310169A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.797A>G MANE Select	ENSP00000373648.3:p.Tyr266Cys
ENST00000521134.6:c.437A>G	ENSP00000429799.1:p.Tyr146Cys
ENST00000638588.1:c.470A>G	ENSP00000491940.1:p.Tyr157Cys
ENST00000639358.1:c.447A>G
ENST00000639496.1:c.470A>G	ENSP00000491165.1:p.Tyr157Cys
ENST00000388996.8:c.797A>G	ENSP00000373648.3:p.Tyr266Cys
ENST00000519445.5:c.797A>G	ENSP00000428790.1:p.Tyr266Cys
ENST00000519589.1:n.575A>G
ENST00000521134.5:c.437A>G	ENSP00000429799.1:p.Tyr146Cys
ENST00000621976.1:c.434A>G	ENSP00000482510.1:p.Tyr145Cys
NM_001204824.1:c.437A>G	NP_001191753.1:p.Tyr146Cys
NM_004519.3:c.797A>G	NP_004510.1:p.Tyr266Cys
XM_005250914.2:c.-360A>G	XP_005250971.1:n.-360A>G
XM_006716555.2:c.89A>G	XP_006716618.1:p.Tyr30Cys
XM_011517026.1:c.437A>G	XP_011515328.1:p.Tyr146Cys
XM_005250914.3:c.-360A>G	XP_005250971.1:n.-360A>G
XM_006716555.3:c.89A>G	XP_006716618.1:p.Tyr30Cys
XM_011517026.2:c.437A>G	XP_011515328.1:p.Tyr146Cys
XM_017013400.1:c.575A>G	XP_016868889.1:p.Tyr192Cys
NM_004519.4:c.797A>G MANE Select	NP_004510.1:p.Tyr266Cys
NM_001204824.2:c.437A>G	NP_001191753.1:p.Tyr146Cys