Canonical Allele Identifier: CA463070405
Gene: KCNQ3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133187808A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175561A>C , CM000670.2:g.132175561A>C GRCh38
NC_000008.10:g.133187808A>C , CM000670.1:g.133187808A>C GRCh37
NC_000008.9:g.133256990A>C NCBI36
NG_008854.2:g.310197T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.825T>G MANE Select ENSP00000373648.3:p.Ser275=
ENST00000521134.6:c.465T>G ENSP00000429799.1:p.Ser155=
ENST00000638588.1:c.498T>G ENSP00000491940.1:p.Ser166=
ENST00000639358.1:c.475T>G
ENST00000639496.1:c.498T>G ENSP00000491165.1:p.Ser166=
ENST00000388996.8:c.825T>G ENSP00000373648.3:p.Ser275=
ENST00000519445.5:c.825T>G ENSP00000428790.1:p.Ser275=
ENST00000519589.1:n.603T>G
ENST00000521134.5:c.465T>G ENSP00000429799.1:p.Ser155=
ENST00000621976.1:c.462T>G ENSP00000482510.1:p.Ser154=
NM_001204824.1:c.465T>G NP_001191753.1:p.Ser155=
NM_004519.3:c.825T>G NP_004510.1:p.Ser275=
XM_005250914.2:c.-332T>G XP_005250971.1:n.-332T>G
XM_006716555.2:c.117T>G XP_006716618.1:p.Ser39=
XM_011517026.1:c.465T>G XP_011515328.1:p.Ser155=
XM_005250914.3:c.-332T>G XP_005250971.1:n.-332T>G
XM_006716555.3:c.117T>G XP_006716618.1:p.Ser39=
XM_011517026.2:c.465T>G XP_011515328.1:p.Ser155=
XM_017013400.1:c.603T>G XP_016868889.1:p.Ser201=
NM_004519.4:c.825T>G MANE Select NP_004510.1:p.Ser275=
NM_001204824.2:c.465T>G NP_001191753.1:p.Ser155=