Canonical Allele Identifier: CA645546528

Gene: KCNQ3

Linked Data

• COSMIC: COSM4518768

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175591_132175592delinsTT , CM000670.2:g.132175591_132175592delinsTT	GRCh38
NC_000008.10:g.133187838_133187839delinsTT , CM000670.1:g.133187838_133187839delinsTT	GRCh37
NC_000008.9:g.133257020_133257021delinsTT	NCBI36
NG_008854.2:g.310166_310167delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.794_795delinsAA MANE Select	ENSP00000373648.3:p.Trp265Ter
ENST00000521134.6:c.434_435delinsAA	ENSP00000429799.1:p.Trp145Ter
ENST00000638588.1:c.467_468delinsAA	ENSP00000491940.1:p.Trp156Ter
ENST00000639358.1:c.444_445delinsAA
ENST00000639496.1:c.467_468delinsAA	ENSP00000491165.1:p.Trp156Ter
ENST00000388996.8:c.794_795delinsAA	ENSP00000373648.3:p.Trp265Ter
ENST00000519445.5:c.794_795delinsAA	ENSP00000428790.1:p.Trp265Ter
ENST00000519589.1:n.572_573delinsAA
ENST00000521134.5:c.434_435delinsAA	ENSP00000429799.1:p.Trp145Ter
ENST00000621976.1:c.431_432delinsAA	ENSP00000482510.1:p.Trp144Ter
NM_001204824.1:c.434_435delinsAA	NP_001191753.1:p.Trp145Ter
NM_004519.3:c.794_795delinsAA	NP_004510.1:p.Trp265Ter
XM_005250914.2:c.-363_-362delinsAA	XP_005250971.1:n.-363_-362delinsAA
XM_006716555.2:c.86_87delinsAA	XP_006716618.1:p.Trp29Ter
XM_011517026.1:c.434_435delinsAA	XP_011515328.1:p.Trp145Ter
XM_005250914.3:c.-363_-362delinsAA	XP_005250971.1:n.-363_-362delinsAA
XM_006716555.3:c.86_87delinsAA	XP_006716618.1:p.Trp29Ter
XM_011517026.2:c.434_435delinsAA	XP_011515328.1:p.Trp145Ter
XM_017013400.1:c.572_573delinsAA	XP_016868889.1:p.Trp191Ter
NM_004519.4:c.794_795delinsAA MANE Select	NP_004510.1:p.Trp265Ter
NM_001204824.2:c.434_435delinsAA	NP_001191753.1:p.Trp145Ter