Canonical Allele Identifier: CA372290330

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 571923
• ClinVar RCV Id: RCV000693184
• dbSNP Id: rs118192248
• MyVariant Identifiers: chr8:g.133187719T>A (hg19) ; chr8:g.132175472T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175472T>A , CM000670.2:g.132175472T>A	GRCh38
NC_000008.10:g.133187719T>A , CM000670.1:g.133187719T>A	GRCh37
NC_000008.9:g.133256901T>A	NCBI36
NG_008854.2:g.310286A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.914A>T MANE Select	ENSP00000373648.3:p.Asp305Val
ENST00000521134.6:c.554A>T	ENSP00000429799.1:p.Asp185Val
ENST00000638588.1:c.587A>T	ENSP00000491940.1:p.Asp196Val
ENST00000639358.1:c.564A>T
ENST00000639496.1:c.587A>T	ENSP00000491165.1:p.Asp196Val
ENST00000388996.8:c.914A>T	ENSP00000373648.3:p.Asp305Val
ENST00000519445.5:c.914A>T	ENSP00000428790.1:p.Asp305Val
ENST00000519589.1:n.692A>T
ENST00000521134.5:c.554A>T	ENSP00000429799.1:p.Asp185Val
ENST00000621976.1:c.551A>T	ENSP00000482510.1:p.Asp184Val
NM_001204824.1:c.554A>T	NP_001191753.1:p.Asp185Val
NM_004519.3:c.914A>T	NP_004510.1:p.Asp305Val
XM_005250914.2:c.-243A>T	XP_005250971.1:n.-243A>T
XM_006716555.2:c.206A>T	XP_006716618.1:p.Asp69Val
XM_011517026.1:c.554A>T	XP_011515328.1:p.Asp185Val
XM_005250914.3:c.-243A>T	XP_005250971.1:n.-243A>T
XM_006716555.3:c.206A>T	XP_006716618.1:p.Asp69Val
XM_011517026.2:c.554A>T	XP_011515328.1:p.Asp185Val
XM_017013400.1:c.692A>T	XP_016868889.1:p.Asp231Val
NM_004519.4:c.914A>T MANE Select	NP_004510.1:p.Asp305Val
NM_001204824.2:c.554A>T	NP_001191753.1:p.Asp185Val