Canonical Allele Identifier: CA372290416
Gene: KCNQ3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175508C>G , CM000670.2:g.132175508C>G GRCh38
NC_000008.10:g.133187755C>G , CM000670.1:g.133187755C>G GRCh37
NC_000008.9:g.133256937C>G NCBI36
NG_008854.2:g.310250G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.878G>C MANE Select ENSP00000373648.3:p.Gly293Ala
ENST00000521134.6:c.518G>C ENSP00000429799.1:p.Gly173Ala
ENST00000638588.1:c.551G>C ENSP00000491940.1:p.Gly184Ala
ENST00000639358.1:c.528G>C
ENST00000639496.1:c.551G>C ENSP00000491165.1:p.Gly184Ala
ENST00000388996.8:c.878G>C ENSP00000373648.3:p.Gly293Ala
ENST00000519445.5:c.878G>C ENSP00000428790.1:p.Gly293Ala
ENST00000519589.1:n.656G>C
ENST00000521134.5:c.518G>C ENSP00000429799.1:p.Gly173Ala
ENST00000621976.1:c.515G>C ENSP00000482510.1:p.Gly172Ala
NM_001204824.1:c.518G>C NP_001191753.1:p.Gly173Ala
NM_004519.3:c.878G>C NP_004510.1:p.Gly293Ala
XM_005250914.2:c.-279G>C XP_005250971.1:n.-279G>C
XM_006716555.2:c.170G>C XP_006716618.1:p.Gly57Ala
XM_011517026.1:c.518G>C XP_011515328.1:p.Gly173Ala
XM_005250914.3:c.-279G>C XP_005250971.1:n.-279G>C
XM_006716555.3:c.170G>C XP_006716618.1:p.Gly57Ala
XM_011517026.2:c.518G>C XP_011515328.1:p.Gly173Ala
XM_017013400.1:c.656G>C XP_016868889.1:p.Gly219Ala
NM_004519.4:c.878G>C MANE Select NP_004510.1:p.Gly293Ala
NM_001204824.2:c.518G>C NP_001191753.1:p.Gly173Ala