Canonical Allele Identifier: CA372290506

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187797A>T (hg19) ; chr8:g.132175550A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175550A>T , CM000670.2:g.132175550A>T	GRCh38
NC_000008.10:g.133187797A>T , CM000670.1:g.133187797A>T	GRCh37
NC_000008.9:g.133256979A>T	NCBI36
NG_008854.2:g.310208T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.836T>A MANE Select	ENSP00000373648.3:p.Val279Asp
ENST00000521134.6:c.476T>A	ENSP00000429799.1:p.Val159Asp
ENST00000638588.1:c.509T>A	ENSP00000491940.1:p.Val170Asp
ENST00000639358.1:c.486T>A
ENST00000639496.1:c.509T>A	ENSP00000491165.1:p.Val170Asp
ENST00000388996.8:c.836T>A	ENSP00000373648.3:p.Val279Asp
ENST00000519445.5:c.836T>A	ENSP00000428790.1:p.Val279Asp
ENST00000519589.1:n.614T>A
ENST00000521134.5:c.476T>A	ENSP00000429799.1:p.Val159Asp
ENST00000621976.1:c.473T>A	ENSP00000482510.1:p.Val158Asp
NM_001204824.1:c.476T>A	NP_001191753.1:p.Val159Asp
NM_004519.3:c.836T>A	NP_004510.1:p.Val279Asp
XM_005250914.2:c.-321T>A	XP_005250971.1:n.-321T>A
XM_006716555.2:c.128T>A	XP_006716618.1:p.Val43Asp
XM_011517026.1:c.476T>A	XP_011515328.1:p.Val159Asp
XM_005250914.3:c.-321T>A	XP_005250971.1:n.-321T>A
XM_006716555.3:c.128T>A	XP_006716618.1:p.Val43Asp
XM_011517026.2:c.476T>A	XP_011515328.1:p.Val159Asp
XM_017013400.1:c.614T>A	XP_016868889.1:p.Val205Asp
NM_004519.4:c.836T>A MANE Select	NP_004510.1:p.Val279Asp
NM_001204824.2:c.476T>A	NP_001191753.1:p.Val159Asp