Canonical Allele Identifier: CA315593

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 205963
• ClinVar RCV Id: RCV000187968 ; RCV000210407 ; RCV000824686 ; RCV000824975 ; RCV001042557
• dbSNP Id: rs796052676
• gnomAD v4: 8-132180246-G-A
• COSMIC: COSM3317776
• MyVariant Identifiers: chr8:g.133192493G>A (hg19) ; chr8:g.132180246G>A (hg38)
• PubMed: PMID:23020937 ; PMID:23934111 ; PMID:26350515 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132180246G>A , CM000670.2:g.132180246G>A	GRCh38
NC_000008.10:g.133192493G>A , CM000670.1:g.133192493G>A	GRCh37
NC_000008.9:g.133261675G>A	NCBI36
NG_008854.2:g.305512C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.688C>T MANE Select	ENSP00000373648.3:p.Arg230Cys
ENST00000521134.6:c.328C>T	ENSP00000429799.1:p.Arg110Cys
ENST00000638588.1:c.361C>T	ENSP00000491940.1:p.Arg121Cys
ENST00000639358.1:c.338C>T
ENST00000639496.1:c.361C>T	ENSP00000491165.1:p.Arg121Cys
ENST00000388996.8:c.688C>T	ENSP00000373648.3:p.Arg230Cys
ENST00000519445.5:c.688C>T	ENSP00000428790.1:p.Arg230Cys
ENST00000519589.1:n.466C>T
ENST00000521134.5:c.328C>T	ENSP00000429799.1:p.Arg110Cys
ENST00000621976.1:c.325C>T	ENSP00000482510.1:p.Arg109Cys
NM_001204824.1:c.328C>T	NP_001191753.1:p.Arg110Cys
NM_004519.3:c.688C>T	NP_004510.1:p.Arg230Cys
XM_005250914.2:c.-469C>T	XP_005250971.1:n.-469C>T
XM_006716555.2:c.-21C>T	XP_006716618.1:n.-21C>T
XM_011517026.1:c.328C>T	XP_011515328.1:p.Arg110Cys
XM_005250914.3:c.-469C>T	XP_005250971.1:n.-469C>T
XM_006716555.3:c.-21C>T	XP_006716618.1:n.-21C>T
XM_011517026.2:c.328C>T	XP_011515328.1:p.Arg110Cys
XM_017013400.1:c.466C>T	XP_016868889.1:p.Arg156Cys
NM_004519.4:c.688C>T MANE Select	NP_004510.1:p.Arg230Cys
NM_001204824.2:c.328C>T	NP_001191753.1:p.Arg110Cys