Canonical Allele Identifier: CA1820664559
Gene: KCNQ3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175572_132175581delinsGTGTCAGGAA , CM000670.2:g.132175572_132175581delinsGTGTCAGGAA GRCh38
NC_000008.10:g.133187819_133187828delinsGTGTCAGGAA , CM000670.1:g.133187819_133187828delinsGTGTCAGGAA GRCh37
NC_000008.9:g.133257001_133257010delinsGTGTCAGGAA NCBI36
NG_008854.2:g.310177_310186delinsTTCCTGACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.805_814delinsTTCCTGACAC MANE Select ENSP00000373648.3:p.Phe269=
ENST00000521134.6:c.445_454delinsTTCCTGACAC ENSP00000429799.1:p.Phe149=
ENST00000638588.1:c.478_487delinsTTCCTGACAC ENSP00000491940.1:p.Phe160=
ENST00000639358.1:c.455_464delinsTTCCTGACAC
ENST00000639496.1:c.478_487delinsTTCCTGACAC ENSP00000491165.1:p.Phe160=
ENST00000388996.8:c.805_814delinsTTCCTGACAC ENSP00000373648.3:p.Phe269=
ENST00000519445.5:c.805_814delinsTTCCTGACAC ENSP00000428790.1:p.Phe269=
ENST00000519589.1:n.583_592delinsTTCCTGACAC
ENST00000521134.5:c.445_454delinsTTCCTGACAC ENSP00000429799.1:p.Phe149=
ENST00000621976.1:c.442_451delinsTTCCTGACAC ENSP00000482510.1:p.Phe148=
NM_001204824.1:c.445_454delinsTTCCTGACAC NP_001191753.1:p.Phe149=
NM_004519.3:c.805_814delinsTTCCTGACAC NP_004510.1:p.Phe269=
XM_005250914.2:c.-352_-343delinsTTCCTGACAC XP_005250971.1:n.-352_-343delinsTTCCTGACAC
XM_006716555.2:c.97_106delinsTTCCTGACAC XP_006716618.1:p.Phe33=
XM_011517026.1:c.445_454delinsTTCCTGACAC XP_011515328.1:p.Phe149=
XM_005250914.3:c.-352_-343delinsTTCCTGACAC XP_005250971.1:n.-352_-343delinsTTCCTGACAC
XM_006716555.3:c.97_106delinsTTCCTGACAC XP_006716618.1:p.Phe33=
XM_011517026.2:c.445_454delinsTTCCTGACAC XP_011515328.1:p.Phe149=
XM_017013400.1:c.583_592delinsTTCCTGACAC XP_016868889.1:p.Phe195=
NM_004519.4:c.805_814delinsTTCCTGACAC MANE Select NP_004510.1:p.Phe269=
NM_001204824.2:c.445_454delinsTTCCTGACAC NP_001191753.1:p.Phe149=