Canonical Allele Identifier: CA372290514

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187801G>C (hg19) ; chr8:g.132175554G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175554G>C , CM000670.2:g.132175554G>C	GRCh38
NC_000008.10:g.133187801G>C , CM000670.1:g.133187801G>C	GRCh37
NC_000008.9:g.133256983G>C	NCBI36
NG_008854.2:g.310204C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.832C>G MANE Select	ENSP00000373648.3:p.Leu278Val
ENST00000521134.6:c.472C>G	ENSP00000429799.1:p.Leu158Val
ENST00000638588.1:c.505C>G	ENSP00000491940.1:p.Leu169Val
ENST00000639358.1:c.482C>G
ENST00000639496.1:c.505C>G	ENSP00000491165.1:p.Leu169Val
ENST00000388996.8:c.832C>G	ENSP00000373648.3:p.Leu278Val
ENST00000519445.5:c.832C>G	ENSP00000428790.1:p.Leu278Val
ENST00000519589.1:n.610C>G
ENST00000521134.5:c.472C>G	ENSP00000429799.1:p.Leu158Val
ENST00000621976.1:c.469C>G	ENSP00000482510.1:p.Leu157Val
NM_001204824.1:c.472C>G	NP_001191753.1:p.Leu158Val
NM_004519.3:c.832C>G	NP_004510.1:p.Leu278Val
XM_005250914.2:c.-325C>G	XP_005250971.1:n.-325C>G
XM_006716555.2:c.124C>G	XP_006716618.1:p.Leu42Val
XM_011517026.1:c.472C>G	XP_011515328.1:p.Leu158Val
XM_005250914.3:c.-325C>G	XP_005250971.1:n.-325C>G
XM_006716555.3:c.124C>G	XP_006716618.1:p.Leu42Val
XM_011517026.2:c.472C>G	XP_011515328.1:p.Leu158Val
XM_017013400.1:c.610C>G	XP_016868889.1:p.Leu204Val
NM_004519.4:c.832C>G MANE Select	NP_004510.1:p.Leu278Val
NM_001204824.2:c.472C>G	NP_001191753.1:p.Leu158Val