Canonical Allele Identifier: CA372290568

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187827A>C (hg19) ; chr8:g.132175580A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175580A>C , CM000670.2:g.132175580A>C	GRCh38
NC_000008.10:g.133187827A>C , CM000670.1:g.133187827A>C	GRCh37
NC_000008.9:g.133257009A>C	NCBI36
NG_008854.2:g.310178T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.806T>G MANE Select	ENSP00000373648.3:p.Phe269Cys
ENST00000521134.6:c.446T>G	ENSP00000429799.1:p.Phe149Cys
ENST00000638588.1:c.479T>G	ENSP00000491940.1:p.Phe160Cys
ENST00000639358.1:c.456T>G
ENST00000639496.1:c.479T>G	ENSP00000491165.1:p.Phe160Cys
ENST00000388996.8:c.806T>G	ENSP00000373648.3:p.Phe269Cys
ENST00000519445.5:c.806T>G	ENSP00000428790.1:p.Phe269Cys
ENST00000519589.1:n.584T>G
ENST00000521134.5:c.446T>G	ENSP00000429799.1:p.Phe149Cys
ENST00000621976.1:c.443T>G	ENSP00000482510.1:p.Phe148Cys
NM_001204824.1:c.446T>G	NP_001191753.1:p.Phe149Cys
NM_004519.3:c.806T>G	NP_004510.1:p.Phe269Cys
XM_005250914.2:c.-351T>G	XP_005250971.1:n.-351T>G
XM_006716555.2:c.98T>G	XP_006716618.1:p.Phe33Cys
XM_011517026.1:c.446T>G	XP_011515328.1:p.Phe149Cys
XM_005250914.3:c.-351T>G	XP_005250971.1:n.-351T>G
XM_006716555.3:c.98T>G	XP_006716618.1:p.Phe33Cys
XM_011517026.2:c.446T>G	XP_011515328.1:p.Phe149Cys
XM_017013400.1:c.584T>G	XP_016868889.1:p.Phe195Cys
NM_004519.4:c.806T>G MANE Select	NP_004510.1:p.Phe269Cys
NM_001204824.2:c.446T>G	NP_001191753.1:p.Phe149Cys