Canonical Allele Identifier: CA463070369
Gene: KCNQ3 HGNC NCBI

Linked Data

COSMIC: COSM272841
MyVariant Identifiers: chr8:g.133187754T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175507T>C , CM000670.2:g.132175507T>C GRCh38
NC_000008.10:g.133187754T>C , CM000670.1:g.133187754T>C GRCh37
NC_000008.9:g.133256936T>C NCBI36
NG_008854.2:g.310251A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.879A>G MANE Select ENSP00000373648.3:p.Gly293=
ENST00000521134.6:c.519A>G ENSP00000429799.1:p.Gly173=
ENST00000638588.1:c.552A>G ENSP00000491940.1:p.Gly184=
ENST00000639358.1:c.529A>G
ENST00000639496.1:c.552A>G ENSP00000491165.1:p.Gly184=
ENST00000388996.8:c.879A>G ENSP00000373648.3:p.Gly293=
ENST00000519445.5:c.879A>G ENSP00000428790.1:p.Gly293=
ENST00000519589.1:n.657A>G
ENST00000521134.5:c.519A>G ENSP00000429799.1:p.Gly173=
ENST00000621976.1:c.516A>G ENSP00000482510.1:p.Gly172=
NM_001204824.1:c.519A>G NP_001191753.1:p.Gly173=
NM_004519.3:c.879A>G NP_004510.1:p.Gly293=
XM_005250914.2:c.-278A>G XP_005250971.1:n.-278A>G
XM_006716555.2:c.171A>G XP_006716618.1:p.Gly57=
XM_011517026.1:c.519A>G XP_011515328.1:p.Gly173=
XM_005250914.3:c.-278A>G XP_005250971.1:n.-278A>G
XM_006716555.3:c.171A>G XP_006716618.1:p.Gly57=
XM_011517026.2:c.519A>G XP_011515328.1:p.Gly173=
XM_017013400.1:c.657A>G XP_016868889.1:p.Gly219=
NM_004519.4:c.879A>G MANE Select NP_004510.1:p.Gly293=
NM_001204824.2:c.519A>G NP_001191753.1:p.Gly173=