Canonical Allele Identifier: CA463070400

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187799A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175552A>C , CM000670.2:g.132175552A>C	GRCh38
NC_000008.10:g.133187799A>C , CM000670.1:g.133187799A>C	GRCh37
NC_000008.9:g.133256981A>C	NCBI36
NG_008854.2:g.310206T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.834T>G MANE Select	ENSP00000373648.3:p.Leu278=
ENST00000521134.6:c.474T>G	ENSP00000429799.1:p.Leu158=
ENST00000638588.1:c.507T>G	ENSP00000491940.1:p.Leu169=
ENST00000639358.1:c.484T>G
ENST00000639496.1:c.507T>G	ENSP00000491165.1:p.Leu169=
ENST00000388996.8:c.834T>G	ENSP00000373648.3:p.Leu278=
ENST00000519445.5:c.834T>G	ENSP00000428790.1:p.Leu278=
ENST00000519589.1:n.612T>G
ENST00000521134.5:c.474T>G	ENSP00000429799.1:p.Leu158=
ENST00000621976.1:c.471T>G	ENSP00000482510.1:p.Leu157=
NM_001204824.1:c.474T>G	NP_001191753.1:p.Leu158=
NM_004519.3:c.834T>G	NP_004510.1:p.Leu278=
XM_005250914.2:c.-323T>G	XP_005250971.1:n.-323T>G
XM_006716555.2:c.126T>G	XP_006716618.1:p.Leu42=
XM_011517026.1:c.474T>G	XP_011515328.1:p.Leu158=
XM_005250914.3:c.-323T>G	XP_005250971.1:n.-323T>G
XM_006716555.3:c.126T>G	XP_006716618.1:p.Leu42=
XM_011517026.2:c.474T>G	XP_011515328.1:p.Leu158=
XM_017013400.1:c.612T>G	XP_016868889.1:p.Leu204=
NM_004519.4:c.834T>G MANE Select	NP_004510.1:p.Leu278=
NM_001204824.2:c.474T>G	NP_001191753.1:p.Leu158=