Canonical Allele Identifier: CA463070416

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187817G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175570G>C , CM000670.2:g.132175570G>C	GRCh38
NC_000008.10:g.133187817G>C , CM000670.1:g.133187817G>C	GRCh37
NC_000008.9:g.133256999G>C	NCBI36
NG_008854.2:g.310188C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.816C>G MANE Select	ENSP00000373648.3:p.Leu272=
ENST00000521134.6:c.456C>G	ENSP00000429799.1:p.Leu152=
ENST00000638588.1:c.489C>G	ENSP00000491940.1:p.Leu163=
ENST00000639358.1:c.466C>G
ENST00000639496.1:c.489C>G	ENSP00000491165.1:p.Leu163=
ENST00000388996.8:c.816C>G	ENSP00000373648.3:p.Leu272=
ENST00000519445.5:c.816C>G	ENSP00000428790.1:p.Leu272=
ENST00000519589.1:n.594C>G
ENST00000521134.5:c.456C>G	ENSP00000429799.1:p.Leu152=
ENST00000621976.1:c.453C>G	ENSP00000482510.1:p.Leu151=
NM_001204824.1:c.456C>G	NP_001191753.1:p.Leu152=
NM_004519.3:c.816C>G	NP_004510.1:p.Leu272=
XM_005250914.2:c.-341C>G	XP_005250971.1:n.-341C>G
XM_006716555.2:c.108C>G	XP_006716618.1:p.Leu36=
XM_011517026.1:c.456C>G	XP_011515328.1:p.Leu152=
XM_005250914.3:c.-341C>G	XP_005250971.1:n.-341C>G
XM_006716555.3:c.108C>G	XP_006716618.1:p.Leu36=
XM_011517026.2:c.456C>G	XP_011515328.1:p.Leu152=
XM_017013400.1:c.594C>G	XP_016868889.1:p.Leu198=
NM_004519.4:c.816C>G MANE Select	NP_004510.1:p.Leu272=
NM_001204824.2:c.456C>G	NP_001191753.1:p.Leu152=