Canonical Allele Identifier: CA372215537
Gene: KCNQ3 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132129338C>T , CM000670.2:g.132129338C>T GRCh38
NC_000008.10:g.133141585C>T , CM000670.1:g.133141585C>T GRCh37
NC_000008.9:g.133210767C>T NCBI36
NG_008854.2:g.356420G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.2543G>A MANE Select ENSP00000373648.3:p.Ser848Asn
ENST00000521134.6:c.2183G>A ENSP00000429799.1:p.Ser728Asn
ENST00000639496.1:c.*1167G>A ENSP00000491165.1:n.*1167G>A
ENST00000388996.8:c.2543G>A ENSP00000373648.3:p.Ser848Asn
ENST00000519445.5:c.2507G>A ENSP00000428790.1:p.Ser836Asn
ENST00000519589.1:n.3271G>A
ENST00000521134.5:c.2183G>A ENSP00000429799.1:p.Ser728Asn
ENST00000621976.1:c.2180G>A ENSP00000482510.1:p.Ser727Asn
NM_001204824.1:c.2183G>A NP_001191753.1:p.Ser728Asn
NM_004519.3:c.2543G>A NP_004510.1:p.Ser848Asn
XM_005250914.2:c.1298G>A XP_005250971.1:p.Ser433Asn
XM_006716555.2:c.1835G>A XP_006716618.1:p.Ser612Asn
XM_011517026.1:c.2183G>A XP_011515328.1:p.Ser728Asn
XM_005250914.3:c.1298G>A XP_005250971.1:p.Ser433Asn
XM_006716555.3:c.1835G>A XP_006716618.1:p.Ser612Asn
XM_011517026.2:c.2183G>A XP_011515328.1:p.Ser728Asn
XM_017013400.1:c.2321G>A XP_016868889.1:p.Ser774Asn
NM_004519.4:c.2543G>A MANE Select NP_004510.1:p.Ser848Asn
NM_001204824.2:c.2183G>A NP_001191753.1:p.Ser728Asn