Canonical Allele Identifier: CA372290332
Gene: KCNQ3 HGNC NCBI

Linked Data

ClinVar Variation Id: 427162
ClinVar RCV Id: RCV000490209
dbSNP Id: rs1085307996
MyVariant Identifiers: chr8:g.133187720C>A (hg19) chr8:g.132175473C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175473C>A , CM000670.2:g.132175473C>A GRCh38
NC_000008.10:g.133187720C>A , CM000670.1:g.133187720C>A GRCh37
NC_000008.9:g.133256902C>A NCBI36
NG_008854.2:g.310285G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388996.10:c.913G>T MANE Select ENSP00000373648.3:p.Asp305Tyr
ENST00000521134.6:c.553G>T ENSP00000429799.1:p.Asp185Tyr
ENST00000638588.1:c.586G>T ENSP00000491940.1:p.Asp196Tyr
ENST00000639358.1:c.563G>T
ENST00000639496.1:c.586G>T ENSP00000491165.1:p.Asp196Tyr
ENST00000388996.8:c.913G>T ENSP00000373648.3:p.Asp305Tyr
ENST00000519445.5:c.913G>T ENSP00000428790.1:p.Asp305Tyr
ENST00000519589.1:n.691G>T
ENST00000521134.5:c.553G>T ENSP00000429799.1:p.Asp185Tyr
ENST00000621976.1:c.550G>T ENSP00000482510.1:p.Asp184Tyr
NM_001204824.1:c.553G>T NP_001191753.1:p.Asp185Tyr
NM_004519.3:c.913G>T NP_004510.1:p.Asp305Tyr
XM_005250914.2:c.-244G>T XP_005250971.1:n.-244G>T
XM_006716555.2:c.205G>T XP_006716618.1:p.Asp69Tyr
XM_011517026.1:c.553G>T XP_011515328.1:p.Asp185Tyr
XM_005250914.3:c.-244G>T XP_005250971.1:n.-244G>T
XM_006716555.3:c.205G>T XP_006716618.1:p.Asp69Tyr
XM_011517026.2:c.553G>T XP_011515328.1:p.Asp185Tyr
XM_017013400.1:c.691G>T XP_016868889.1:p.Asp231Tyr
NM_004519.4:c.913G>T MANE Select NP_004510.1:p.Asp305Tyr
NM_001204824.2:c.553G>T NP_001191753.1:p.Asp185Tyr
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