Canonical Allele Identifier: CA4880889
Gene: KCNQ3 HGNC NCBI

Linked Data

ClinVar Variation Id: 497989
dbSNP Id: rs541587196

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132184231C>A , CM000670.2:g.132184231C>A GRCh38
NC_000008.10:g.133196478C>A , CM000670.1:g.133196478C>A GRCh37
NC_000008.9:g.133265660C>A NCBI36
NG_008854.2:g.301527G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.604+10G>T MANE Select ENSP00000373648.3:n.604+10G>T
ENST00000521134.6:c.244+10G>T ENSP00000429799.1:n.244+10G>T
ENST00000638588.1:c.277+10G>T ENSP00000491940.1:n.277+10G>T
ENST00000639358.1:c.254+1860G>T
ENST00000639496.1:c.277+10G>T ENSP00000491165.1:n.277+10G>T
ENST00000388996.8:c.604+10G>T ENSP00000373648.3:n.604+10G>T
ENST00000519445.5:c.604+10G>T ENSP00000428790.1:n.604+10G>T
ENST00000519589.1:n.382+10G>T
ENST00000521134.5:c.244+10G>T ENSP00000429799.1:n.244+10G>T
ENST00000621976.1:c.241+10G>T ENSP00000482510.1:n.241+10G>T
NM_001204824.1:c.244+10G>T NP_001191753.1:n.244+10G>T
NM_004519.3:c.604+10G>T NP_004510.1:n.604+10G>T
XM_006716555.2:c.-105+15G>T XP_006716618.1:n.-105+15G>T
XM_011517026.1:c.244+10G>T XP_011515328.1:n.244+10G>T
XM_006716555.3:c.-105+15G>T XP_006716618.1:n.-105+15G>T
XM_011517026.2:c.244+10G>T XP_011515328.1:n.244+10G>T
XM_017013400.1:c.382+10G>T XP_016868889.1:n.382+10G>T
NM_004519.4:c.604+10G>T MANE Select NP_004510.1:n.604+10G>T
NM_001204824.2:c.244+10G>T NP_001191753.1:n.244+10G>T