Canonical Allele Identifier: CA463070435
Gene: KCNQ3 HGNC NCBI

Linked Data

dbSNP Id: rs762086066
MyVariant Identifiers: chr8:g.133187844C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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