Canonical Allele Identifier: CA463070422
Gene: KCNQ3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133187823C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175576C>T , CM000670.2:g.132175576C>T GRCh38
NC_000008.10:g.133187823C>T , CM000670.1:g.133187823C>T GRCh37
NC_000008.9:g.133257005C>T NCBI36
NG_008854.2:g.310182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.810G>A MANE Select ENSP00000373648.3:p.Leu270=
ENST00000521134.6:c.450G>A ENSP00000429799.1:p.Leu150=
ENST00000638588.1:c.483G>A ENSP00000491940.1:p.Leu161=
ENST00000639358.1:c.460G>A
ENST00000639496.1:c.483G>A ENSP00000491165.1:p.Leu161=
ENST00000388996.8:c.810G>A ENSP00000373648.3:p.Leu270=
ENST00000519445.5:c.810G>A ENSP00000428790.1:p.Leu270=
ENST00000519589.1:n.588G>A
ENST00000521134.5:c.450G>A ENSP00000429799.1:p.Leu150=
ENST00000621976.1:c.447G>A ENSP00000482510.1:p.Leu149=
NM_001204824.1:c.450G>A NP_001191753.1:p.Leu150=
NM_004519.3:c.810G>A NP_004510.1:p.Leu270=
XM_005250914.2:c.-347G>A XP_005250971.1:n.-347G>A
XM_006716555.2:c.102G>A XP_006716618.1:p.Leu34=
XM_011517026.1:c.450G>A XP_011515328.1:p.Leu150=
XM_005250914.3:c.-347G>A XP_005250971.1:n.-347G>A
XM_006716555.3:c.102G>A XP_006716618.1:p.Leu34=
XM_011517026.2:c.450G>A XP_011515328.1:p.Leu150=
XM_017013400.1:c.588G>A XP_016868889.1:p.Leu196=
NM_004519.4:c.810G>A MANE Select NP_004510.1:p.Leu270=
NM_001204824.2:c.450G>A NP_001191753.1:p.Leu150=