Canonical Allele Identifier: CA342043
Gene: KCNQ3 HGNC NCBI

Linked Data

ClinVar Variation Id: 21417
dbSNP Id: rs118192251

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132174295G>A , CM000670.2:g.132174295G>A GRCh38
NC_000008.10:g.133186542G>A , CM000670.1:g.133186542G>A GRCh37
NC_000008.9:g.133255724G>A NCBI36
NG_008854.2:g.311463C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388996.10:c.988C>T MANE Select ENSP00000373648.3:p.Arg330Cys
ENST00000521134.6:c.628C>T ENSP00000429799.1:p.Arg210Cys
ENST00000638588.1:c.661C>T ENSP00000491940.1:p.Arg221Cys
ENST00000639358.1:c.638C>T
ENST00000639496.1:c.661C>T ENSP00000491165.1:p.Arg221Cys
ENST00000388996.8:c.988C>T ENSP00000373648.3:p.Arg330Cys
ENST00000519445.5:c.988C>T ENSP00000428790.1:p.Arg330Cys
ENST00000519589.1:n.766C>T
ENST00000521134.5:c.628C>T ENSP00000429799.1:p.Arg210Cys
ENST00000621976.1:c.625C>T ENSP00000482510.1:p.Arg209Cys
NM_001204824.1:c.628C>T NP_001191753.1:p.Arg210Cys
NM_004519.3:c.988C>T NP_004510.1:p.Arg330Cys
XM_005250914.2:c.-169C>T XP_005250971.1:n.-169C>T
XM_006716555.2:c.280C>T XP_006716618.1:p.Arg94Cys
XM_011517026.1:c.628C>T XP_011515328.1:p.Arg210Cys
XM_005250914.3:c.-169C>T XP_005250971.1:n.-169C>T
XM_006716555.3:c.280C>T XP_006716618.1:p.Arg94Cys
XM_011517026.2:c.628C>T XP_011515328.1:p.Arg210Cys
XM_017013400.1:c.766C>T XP_016868889.1:p.Arg256Cys
NM_004519.4:c.988C>T MANE Select NP_004510.1:p.Arg330Cys
NM_001204824.2:c.628C>T NP_001191753.1:p.Arg210Cys