Canonical Allele Identifier: CA463070373
Gene: KCNQ3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133187760T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175513T>C , CM000670.2:g.132175513T>C GRCh38
NC_000008.10:g.133187760T>C , CM000670.1:g.133187760T>C GRCh37
NC_000008.9:g.133256942T>C NCBI36
NG_008854.2:g.310245A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.873A>G MANE Select ENSP00000373648.3:p.Ala291=
ENST00000521134.6:c.513A>G ENSP00000429799.1:p.Ala171=
ENST00000638588.1:c.546A>G ENSP00000491940.1:p.Ala182=
ENST00000639358.1:c.523A>G
ENST00000639496.1:c.546A>G ENSP00000491165.1:p.Ala182=
ENST00000388996.8:c.873A>G ENSP00000373648.3:p.Ala291=
ENST00000519445.5:c.873A>G ENSP00000428790.1:p.Ala291=
ENST00000519589.1:n.651A>G
ENST00000521134.5:c.513A>G ENSP00000429799.1:p.Ala171=
ENST00000621976.1:c.510A>G ENSP00000482510.1:p.Ala170=
NM_001204824.1:c.513A>G NP_001191753.1:p.Ala171=
NM_004519.3:c.873A>G NP_004510.1:p.Ala291=
XM_005250914.2:c.-284A>G XP_005250971.1:n.-284A>G
XM_006716555.2:c.165A>G XP_006716618.1:p.Ala55=
XM_011517026.1:c.513A>G XP_011515328.1:p.Ala171=
XM_005250914.3:c.-284A>G XP_005250971.1:n.-284A>G
XM_006716555.3:c.165A>G XP_006716618.1:p.Ala55=
XM_011517026.2:c.513A>G XP_011515328.1:p.Ala171=
XM_017013400.1:c.651A>G XP_016868889.1:p.Ala217=
NM_004519.4:c.873A>G MANE Select NP_004510.1:p.Ala291=
NM_001204824.2:c.513A>G NP_001191753.1:p.Ala171=