Canonical Allele Identifier: CA372290540

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187813G>T (hg19) ; chr8:g.132175566G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175566G>T , CM000670.2:g.132175566G>T	GRCh38
NC_000008.10:g.133187813G>T , CM000670.1:g.133187813G>T	GRCh37
NC_000008.9:g.133256995G>T	NCBI36
NG_008854.2:g.310192C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.820C>A MANE Select	ENSP00000373648.3:p.Leu274Ile
ENST00000521134.6:c.460C>A	ENSP00000429799.1:p.Leu154Ile
ENST00000638588.1:c.493C>A	ENSP00000491940.1:p.Leu165Ile
ENST00000639358.1:c.470C>A
ENST00000639496.1:c.493C>A	ENSP00000491165.1:p.Leu165Ile
ENST00000388996.8:c.820C>A	ENSP00000373648.3:p.Leu274Ile
ENST00000519445.5:c.820C>A	ENSP00000428790.1:p.Leu274Ile
ENST00000519589.1:n.598C>A
ENST00000521134.5:c.460C>A	ENSP00000429799.1:p.Leu154Ile
ENST00000621976.1:c.457C>A	ENSP00000482510.1:p.Leu153Ile
NM_001204824.1:c.460C>A	NP_001191753.1:p.Leu154Ile
NM_004519.3:c.820C>A	NP_004510.1:p.Leu274Ile
XM_005250914.2:c.-337C>A	XP_005250971.1:n.-337C>A
XM_006716555.2:c.112C>A	XP_006716618.1:p.Leu38Ile
XM_011517026.1:c.460C>A	XP_011515328.1:p.Leu154Ile
XM_005250914.3:c.-337C>A	XP_005250971.1:n.-337C>A
XM_006716555.3:c.112C>A	XP_006716618.1:p.Leu38Ile
XM_011517026.2:c.460C>A	XP_011515328.1:p.Leu154Ile
XM_017013400.1:c.598C>A	XP_016868889.1:p.Leu200Ile
NM_004519.4:c.820C>A MANE Select	NP_004510.1:p.Leu274Ile
NM_001204824.2:c.460C>A	NP_001191753.1:p.Leu154Ile