Canonical Allele Identifier: CA372290590
Gene: KCNQ3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175589T>G , CM000670.2:g.132175589T>G GRCh38
NC_000008.10:g.133187836T>G , CM000670.1:g.133187836T>G GRCh37
NC_000008.9:g.133257018T>G NCBI36
NG_008854.2:g.310169A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.797A>C MANE Select ENSP00000373648.3:p.Tyr266Ser
ENST00000521134.6:c.437A>C ENSP00000429799.1:p.Tyr146Ser
ENST00000638588.1:c.470A>C ENSP00000491940.1:p.Tyr157Ser
ENST00000639358.1:c.447A>C
ENST00000639496.1:c.470A>C ENSP00000491165.1:p.Tyr157Ser
ENST00000388996.8:c.797A>C ENSP00000373648.3:p.Tyr266Ser
ENST00000519445.5:c.797A>C ENSP00000428790.1:p.Tyr266Ser
ENST00000519589.1:n.575A>C
ENST00000521134.5:c.437A>C ENSP00000429799.1:p.Tyr146Ser
ENST00000621976.1:c.434A>C ENSP00000482510.1:p.Tyr145Ser
NM_001204824.1:c.437A>C NP_001191753.1:p.Tyr146Ser
NM_004519.3:c.797A>C NP_004510.1:p.Tyr266Ser
XM_005250914.2:c.-360A>C XP_005250971.1:n.-360A>C
XM_006716555.2:c.89A>C XP_006716618.1:p.Tyr30Ser
XM_011517026.1:c.437A>C XP_011515328.1:p.Tyr146Ser
XM_005250914.3:c.-360A>C XP_005250971.1:n.-360A>C
XM_006716555.3:c.89A>C XP_006716618.1:p.Tyr30Ser
XM_011517026.2:c.437A>C XP_011515328.1:p.Tyr146Ser
XM_017013400.1:c.575A>C XP_016868889.1:p.Tyr192Ser
NM_004519.4:c.797A>C MANE Select NP_004510.1:p.Tyr266Ser
NM_001204824.2:c.437A>C NP_001191753.1:p.Tyr146Ser