Canonical Allele Identifier: CA372290536

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187812A>T (hg19) ; chr8:g.132175565A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175565A>T , CM000670.2:g.132175565A>T	GRCh38
NC_000008.10:g.133187812A>T , CM000670.1:g.133187812A>T	GRCh37
NC_000008.9:g.133256994A>T	NCBI36
NG_008854.2:g.310193T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.821T>A MANE Select	ENSP00000373648.3:p.Leu274His
ENST00000521134.6:c.461T>A	ENSP00000429799.1:p.Leu154His
ENST00000638588.1:c.494T>A	ENSP00000491940.1:p.Leu165His
ENST00000639358.1:c.471T>A
ENST00000639496.1:c.494T>A	ENSP00000491165.1:p.Leu165His
ENST00000388996.8:c.821T>A	ENSP00000373648.3:p.Leu274His
ENST00000519445.5:c.821T>A	ENSP00000428790.1:p.Leu274His
ENST00000519589.1:n.599T>A
ENST00000521134.5:c.461T>A	ENSP00000429799.1:p.Leu154His
ENST00000621976.1:c.458T>A	ENSP00000482510.1:p.Leu153His
NM_001204824.1:c.461T>A	NP_001191753.1:p.Leu154His
NM_004519.3:c.821T>A	NP_004510.1:p.Leu274His
XM_005250914.2:c.-336T>A	XP_005250971.1:n.-336T>A
XM_006716555.2:c.113T>A	XP_006716618.1:p.Leu38His
XM_011517026.1:c.461T>A	XP_011515328.1:p.Leu154His
XM_005250914.3:c.-336T>A	XP_005250971.1:n.-336T>A
XM_006716555.3:c.113T>A	XP_006716618.1:p.Leu38His
XM_011517026.2:c.461T>A	XP_011515328.1:p.Leu154His
XM_017013400.1:c.599T>A	XP_016868889.1:p.Leu200His
NM_004519.4:c.821T>A MANE Select	NP_004510.1:p.Leu274His
NM_001204824.2:c.461T>A	NP_001191753.1:p.Leu154His