Canonical Allele Identifier: CA372290480

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 909732
• ClinVar RCV Id: RCV001160992
• dbSNP Id: rs1826520634
• MyVariant Identifiers: chr8:g.133187785T>A (hg19) ; chr8:g.132175538T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175538T>A , CM000670.2:g.132175538T>A	GRCh38
NC_000008.10:g.133187785T>A , CM000670.1:g.133187785T>A	GRCh37
NC_000008.9:g.133256967T>A	NCBI36
NG_008854.2:g.310220A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.848A>T MANE Select	ENSP00000373648.3:p.Glu283Val
ENST00000521134.6:c.488A>T	ENSP00000429799.1:p.Glu163Val
ENST00000638588.1:c.521A>T	ENSP00000491940.1:p.Glu174Val
ENST00000639358.1:c.498A>T
ENST00000639496.1:c.521A>T	ENSP00000491165.1:p.Glu174Val
ENST00000388996.8:c.848A>T	ENSP00000373648.3:p.Glu283Val
ENST00000519445.5:c.848A>T	ENSP00000428790.1:p.Glu283Val
ENST00000519589.1:n.626A>T
ENST00000521134.5:c.488A>T	ENSP00000429799.1:p.Glu163Val
ENST00000621976.1:c.485A>T	ENSP00000482510.1:p.Glu162Val
NM_001204824.1:c.488A>T	NP_001191753.1:p.Glu163Val
NM_004519.3:c.848A>T	NP_004510.1:p.Glu283Val
XM_005250914.2:c.-309A>T	XP_005250971.1:n.-309A>T
XM_006716555.2:c.140A>T	XP_006716618.1:p.Glu47Val
XM_011517026.1:c.488A>T	XP_011515328.1:p.Glu163Val
XM_005250914.3:c.-309A>T	XP_005250971.1:n.-309A>T
XM_006716555.3:c.140A>T	XP_006716618.1:p.Glu47Val
XM_011517026.2:c.488A>T	XP_011515328.1:p.Glu163Val
XM_017013400.1:c.626A>T	XP_016868889.1:p.Glu209Val
NM_004519.4:c.848A>T MANE Select	NP_004510.1:p.Glu283Val
NM_001204824.2:c.488A>T	NP_001191753.1:p.Glu163Val