Canonical Allele Identifier: CA372290327

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 659620
• ClinVar RCV Id: RCV000816648
• dbSNP Id: rs1586801127
• MyVariant Identifiers: chr8:g.133187717C>T (hg19) ; chr8:g.132175470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175470C>T , CM000670.2:g.132175470C>T	GRCh38
NC_000008.10:g.133187717C>T , CM000670.1:g.133187717C>T	GRCh37
NC_000008.9:g.133256899C>T	NCBI36
NG_008854.2:g.310288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.916G>A MANE Select	ENSP00000373648.3:p.Ala306Thr
ENST00000521134.6:c.556G>A	ENSP00000429799.1:p.Ala186Thr
ENST00000638588.1:c.589G>A	ENSP00000491940.1:p.Ala197Thr
ENST00000639358.1:c.566G>A
ENST00000639496.1:c.589G>A	ENSP00000491165.1:p.Ala197Thr
ENST00000388996.8:c.916G>A	ENSP00000373648.3:p.Ala306Thr
ENST00000519445.5:c.916G>A	ENSP00000428790.1:p.Ala306Thr
ENST00000519589.1:n.694G>A
ENST00000521134.5:c.556G>A	ENSP00000429799.1:p.Ala186Thr
ENST00000621976.1:c.553G>A	ENSP00000482510.1:p.Ala185Thr
NM_001204824.1:c.556G>A	NP_001191753.1:p.Ala186Thr
NM_004519.3:c.916G>A	NP_004510.1:p.Ala306Thr
XM_005250914.2:c.-241G>A	XP_005250971.1:n.-241G>A
XM_006716555.2:c.208G>A	XP_006716618.1:p.Ala70Thr
XM_011517026.1:c.556G>A	XP_011515328.1:p.Ala186Thr
XM_005250914.3:c.-241G>A	XP_005250971.1:n.-241G>A
XM_006716555.3:c.208G>A	XP_006716618.1:p.Ala70Thr
XM_011517026.2:c.556G>A	XP_011515328.1:p.Ala186Thr
XM_017013400.1:c.694G>A	XP_016868889.1:p.Ala232Thr
NM_004519.4:c.916G>A MANE Select	NP_004510.1:p.Ala306Thr
NM_001204824.2:c.556G>A	NP_001191753.1:p.Ala186Thr