Canonical Allele Identifier: CA16618600
Gene: KCNQ3 HGNC NCBI

Linked Data

ClinVar Variation Id: 420680
ClinVar RCV Id: RCV000480153 RCV001814160
dbSNP Id: rs1064794632
MyVariant Identifiers: chr8:g.133187710C>G (hg19) chr8:g.132175463C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175463C>G , CM000670.2:g.132175463C>G GRCh38
NC_000008.10:g.133187710C>G , CM000670.1:g.133187710C>G GRCh37
NC_000008.9:g.133256892C>G NCBI36
NG_008854.2:g.310295G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000388996.10:c.923G>C MANE Select ENSP00000373648.3:p.Trp308Ser
ENST00000521134.6:c.563G>C ENSP00000429799.1:p.Trp188Ser
ENST00000638588.1:c.596G>C ENSP00000491940.1:p.Trp199Ser
ENST00000639358.1:c.573G>C
ENST00000639496.1:c.596G>C ENSP00000491165.1:p.Trp199Ser
ENST00000388996.8:c.923G>C ENSP00000373648.3:p.Trp308Ser
ENST00000519445.5:c.923G>C ENSP00000428790.1:p.Trp308Ser
ENST00000519589.1:n.701G>C
ENST00000521134.5:c.563G>C ENSP00000429799.1:p.Trp188Ser
ENST00000621976.1:c.560G>C ENSP00000482510.1:p.Trp187Ser
NM_001204824.1:c.563G>C NP_001191753.1:p.Trp188Ser
NM_004519.3:c.923G>C NP_004510.1:p.Trp308Ser
XM_005250914.2:c.-234G>C XP_005250971.1:n.-234G>C
XM_006716555.2:c.215G>C XP_006716618.1:p.Trp72Ser
XM_011517026.1:c.563G>C XP_011515328.1:p.Trp188Ser
XM_005250914.3:c.-234G>C XP_005250971.1:n.-234G>C
XM_006716555.3:c.215G>C XP_006716618.1:p.Trp72Ser
XM_011517026.2:c.563G>C XP_011515328.1:p.Trp188Ser
XM_017013400.1:c.701G>C XP_016868889.1:p.Trp234Ser
NM_004519.4:c.923G>C MANE Select NP_004510.1:p.Trp308Ser
NM_001204824.2:c.563G>C NP_001191753.1:p.Trp188Ser
Search 100 bp 5'
Search 100 bp 3'