Canonical Allele Identifier: CA463070347
Gene: KCNQ3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133187703G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175456G>T , CM000670.2:g.132175456G>T GRCh38
NC_000008.10:g.133187703G>T , CM000670.1:g.133187703G>T GRCh37
NC_000008.9:g.133256885G>T NCBI36
NG_008854.2:g.310302C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.930C>A MANE Select ENSP00000373648.3:p.Gly310=
ENST00000521134.6:c.570C>A ENSP00000429799.1:p.Gly190=
ENST00000638588.1:c.603C>A ENSP00000491940.1:p.Gly201=
ENST00000639358.1:c.580C>A
ENST00000639496.1:c.603C>A ENSP00000491165.1:p.Gly201=
ENST00000388996.8:c.930C>A ENSP00000373648.3:p.Gly310=
ENST00000519445.5:c.930C>A ENSP00000428790.1:p.Gly310=
ENST00000519589.1:n.708C>A
ENST00000521134.5:c.570C>A ENSP00000429799.1:p.Gly190=
ENST00000621976.1:c.567C>A ENSP00000482510.1:p.Gly189=
NM_001204824.1:c.570C>A NP_001191753.1:p.Gly190=
NM_004519.3:c.930C>A NP_004510.1:p.Gly310=
XM_005250914.2:c.-227C>A XP_005250971.1:n.-227C>A
XM_006716555.2:c.222C>A XP_006716618.1:p.Gly74=
XM_011517026.1:c.570C>A XP_011515328.1:p.Gly190=
XM_005250914.3:c.-227C>A XP_005250971.1:n.-227C>A
XM_006716555.3:c.222C>A XP_006716618.1:p.Gly74=
XM_011517026.2:c.570C>A XP_011515328.1:p.Gly190=
XM_017013400.1:c.708C>A XP_016868889.1:p.Gly236=
NM_004519.4:c.930C>A MANE Select NP_004510.1:p.Gly310=
NM_001204824.2:c.570C>A NP_001191753.1:p.Gly190=