Canonical Allele Identifier: CA463070366
Gene: KCNQ3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133187748C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175501C>T , CM000670.2:g.132175501C>T GRCh38
NC_000008.10:g.133187748C>T , CM000670.1:g.133187748C>T GRCh37
NC_000008.9:g.133256930C>T NCBI36
NG_008854.2:g.310257G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000388996.10:c.885G>A MANE Select ENSP00000373648.3:p.Glu295=
ENST00000521134.6:c.525G>A ENSP00000429799.1:p.Glu175=
ENST00000638588.1:c.558G>A ENSP00000491940.1:p.Glu186=
ENST00000639358.1:c.535G>A
ENST00000639496.1:c.558G>A ENSP00000491165.1:p.Glu186=
ENST00000388996.8:c.885G>A ENSP00000373648.3:p.Glu295=
ENST00000519445.5:c.885G>A ENSP00000428790.1:p.Glu295=
ENST00000519589.1:n.663G>A
ENST00000521134.5:c.525G>A ENSP00000429799.1:p.Glu175=
ENST00000621976.1:c.522G>A ENSP00000482510.1:p.Glu174=
NM_001204824.1:c.525G>A NP_001191753.1:p.Glu175=
NM_004519.3:c.885G>A NP_004510.1:p.Glu295=
XM_005250914.2:c.-272G>A XP_005250971.1:n.-272G>A
XM_006716555.2:c.177G>A XP_006716618.1:p.Glu59=
XM_011517026.1:c.525G>A XP_011515328.1:p.Glu175=
XM_005250914.3:c.-272G>A XP_005250971.1:n.-272G>A
XM_006716555.3:c.177G>A XP_006716618.1:p.Glu59=
XM_011517026.2:c.525G>A XP_011515328.1:p.Glu175=
XM_017013400.1:c.663G>A XP_016868889.1:p.Glu221=
NM_004519.4:c.885G>A MANE Select NP_004510.1:p.Glu295=
NM_001204824.2:c.525G>A NP_001191753.1:p.Glu175=