Canonical Allele Identifier: CA463070436
Gene: KCNQ3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133187844C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175597C>G , CM000670.2:g.132175597C>G GRCh38
NC_000008.10:g.133187844C>G , CM000670.1:g.133187844C>G GRCh37
NC_000008.9:g.133257026C>G NCBI36
NG_008854.2:g.310161G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.789G>C MANE Select ENSP00000373648.3:p.Thr263=
ENST00000521134.6:c.429G>C ENSP00000429799.1:p.Thr143=
ENST00000638588.1:c.462G>C ENSP00000491940.1:p.Thr154=
ENST00000639358.1:c.439G>C
ENST00000639496.1:c.462G>C ENSP00000491165.1:p.Thr154=
ENST00000388996.8:c.789G>C ENSP00000373648.3:p.Thr263=
ENST00000519445.5:c.789G>C ENSP00000428790.1:p.Thr263=
ENST00000519589.1:n.567G>C
ENST00000521134.5:c.429G>C ENSP00000429799.1:p.Thr143=
ENST00000621976.1:c.426G>C ENSP00000482510.1:p.Thr142=
NM_001204824.1:c.429G>C NP_001191753.1:p.Thr143=
NM_004519.3:c.789G>C NP_004510.1:p.Thr263=
XM_005250914.2:c.-368G>C XP_005250971.1:n.-368G>C
XM_006716555.2:c.81G>C XP_006716618.1:p.Thr27=
XM_011517026.1:c.429G>C XP_011515328.1:p.Thr143=
XM_005250914.3:c.-368G>C XP_005250971.1:n.-368G>C
XM_006716555.3:c.81G>C XP_006716618.1:p.Thr27=
XM_011517026.2:c.429G>C XP_011515328.1:p.Thr143=
XM_017013400.1:c.567G>C XP_016868889.1:p.Thr189=
NM_004519.4:c.789G>C MANE Select NP_004510.1:p.Thr263=
NM_001204824.2:c.429G>C NP_001191753.1:p.Thr143=