Canonical Allele Identifier: CA1820664561
Gene: KCNQ3 HGNC NCBI

Linked Data

dbSNP Id: rs1826521746

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175573_132175581del , CM000670.2:g.132175573_132175581del GRCh38
NC_000008.10:g.133187820_133187828del , CM000670.1:g.133187820_133187828del GRCh37
NC_000008.9:g.133257002_133257010del NCBI36
NG_008854.2:g.310177_310185del

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.805_813del MANE Select ENSP00000373648.3:p.Phe269_Thr271del
ENST00000521134.6:c.445_453del ENSP00000429799.1:p.Phe149_Thr151del
ENST00000638588.1:c.478_486del ENSP00000491940.1:p.Phe160_Thr162del
ENST00000639358.1:c.455_463del
ENST00000639496.1:c.478_486del ENSP00000491165.1:p.Phe160_Thr162del
ENST00000388996.8:c.805_813del ENSP00000373648.3:p.Phe269_Thr271del
ENST00000519445.5:c.805_813del ENSP00000428790.1:p.Phe269_Thr271del
ENST00000519589.1:n.583_591del
ENST00000521134.5:c.445_453del ENSP00000429799.1:p.Phe149_Thr151del
ENST00000621976.1:c.442_450del ENSP00000482510.1:p.Phe148_Thr150del
NM_001204824.1:c.445_453del NP_001191753.1:p.Phe149_Thr151del
NM_004519.3:c.805_813del NP_004510.1:p.Phe269_Thr271del
XM_005250914.2:c.-352_-344del XP_005250971.1:n.-352_-344del
XM_006716555.2:c.97_105del XP_006716618.1:p.Phe33_Thr35del
XM_011517026.1:c.445_453del XP_011515328.1:p.Phe149_Thr151del
XM_005250914.3:c.-352_-344del XP_005250971.1:n.-352_-344del
XM_006716555.3:c.97_105del XP_006716618.1:p.Phe33_Thr35del
XM_011517026.2:c.445_453del XP_011515328.1:p.Phe149_Thr151del
XM_017013400.1:c.583_591del XP_016868889.1:p.Phe195_Thr197del
NM_004519.4:c.805_813del MANE Select NP_004510.1:p.Phe269_Thr271del
NM_001204824.2:c.445_453del NP_001191753.1:p.Phe149_Thr151del