Canonical Allele Identifier: CA372290310

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 2050378
• ClinVar RCV Id: RCV002921872
• MyVariant Identifiers: chr8:g.133187709C>A (hg19) ; chr8:g.132175462C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175462C>A , CM000670.2:g.132175462C>A	GRCh38
NC_000008.10:g.133187709C>A , CM000670.1:g.133187709C>A	GRCh37
NC_000008.9:g.133256891C>A	NCBI36
NG_008854.2:g.310296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.924G>T MANE Select	ENSP00000373648.3:p.Trp308Cys
ENST00000521134.6:c.564G>T	ENSP00000429799.1:p.Trp188Cys
ENST00000638588.1:c.597G>T	ENSP00000491940.1:p.Trp199Cys
ENST00000639358.1:c.574G>T
ENST00000639496.1:c.597G>T	ENSP00000491165.1:p.Trp199Cys
ENST00000388996.8:c.924G>T	ENSP00000373648.3:p.Trp308Cys
ENST00000519445.5:c.924G>T	ENSP00000428790.1:p.Trp308Cys
ENST00000519589.1:n.702G>T
ENST00000521134.5:c.564G>T	ENSP00000429799.1:p.Trp188Cys
ENST00000621976.1:c.561G>T	ENSP00000482510.1:p.Trp187Cys
NM_001204824.1:c.564G>T	NP_001191753.1:p.Trp188Cys
NM_004519.3:c.924G>T	NP_004510.1:p.Trp308Cys
XM_005250914.2:c.-233G>T	XP_005250971.1:n.-233G>T
XM_006716555.2:c.216G>T	XP_006716618.1:p.Trp72Cys
XM_011517026.1:c.564G>T	XP_011515328.1:p.Trp188Cys
XM_005250914.3:c.-233G>T	XP_005250971.1:n.-233G>T
XM_006716555.3:c.216G>T	XP_006716618.1:p.Trp72Cys
XM_011517026.2:c.564G>T	XP_011515328.1:p.Trp188Cys
XM_017013400.1:c.702G>T	XP_016868889.1:p.Trp234Cys
NM_004519.4:c.924G>T MANE Select	NP_004510.1:p.Trp308Cys
NM_001204824.2:c.564G>T	NP_001191753.1:p.Trp188Cys