Canonical Allele Identifier: CA463070434
Gene: KCNQ3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133187841G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175594G>T , CM000670.2:g.132175594G>T GRCh38
NC_000008.10:g.133187841G>T , CM000670.1:g.133187841G>T GRCh37
NC_000008.9:g.133257023G>T NCBI36
NG_008854.2:g.310164C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.792C>A MANE Select ENSP00000373648.3:p.Ala264=
ENST00000521134.6:c.432C>A ENSP00000429799.1:p.Ala144=
ENST00000638588.1:c.465C>A ENSP00000491940.1:p.Ala155=
ENST00000639358.1:c.442C>A
ENST00000639496.1:c.465C>A ENSP00000491165.1:p.Ala155=
ENST00000388996.8:c.792C>A ENSP00000373648.3:p.Ala264=
ENST00000519445.5:c.792C>A ENSP00000428790.1:p.Ala264=
ENST00000519589.1:n.570C>A
ENST00000521134.5:c.432C>A ENSP00000429799.1:p.Ala144=
ENST00000621976.1:c.429C>A ENSP00000482510.1:p.Ala143=
NM_001204824.1:c.432C>A NP_001191753.1:p.Ala144=
NM_004519.3:c.792C>A NP_004510.1:p.Ala264=
XM_005250914.2:c.-365C>A XP_005250971.1:n.-365C>A
XM_006716555.2:c.84C>A XP_006716618.1:p.Ala28=
XM_011517026.1:c.432C>A XP_011515328.1:p.Ala144=
XM_005250914.3:c.-365C>A XP_005250971.1:n.-365C>A
XM_006716555.3:c.84C>A XP_006716618.1:p.Ala28=
XM_011517026.2:c.432C>A XP_011515328.1:p.Ala144=
XM_017013400.1:c.570C>A XP_016868889.1:p.Ala190=
NM_004519.4:c.792C>A MANE Select NP_004510.1:p.Ala264=
NM_001204824.2:c.432C>A NP_001191753.1:p.Ala144=