Canonical Allele Identifier: CA10630172

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 361762
• ClinVar RCV Id: RCV000288577 ; RCV000403603
• dbSNP Id: rs1437823
• gnomAD v2: 8-133134414-A-C
• gnomAD v3: 8-132122167-A-C
• gnomAD v4: 8-132122167-A-C
• MyVariant Identifiers: chr8:g.133134414A>C (hg19) ; chr8:g.132122167A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132122167A>C , CM000670.2:g.132122167A>C	GRCh38
NC_000008.10:g.133134414A>C , CM000670.1:g.133134414A>C	GRCh37
NC_000008.9:g.133203596A>C	NCBI36
NG_008854.2:g.363591T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.*7095T>G MANE Select	ENSP00000373648.3:n.*7095T>G
ENST00000388996.8:c.*7095T>G	ENSP00000373648.3:n.*7095T>G
ENST00000621976.1:c.9351T>G	ENSP00000482510.1:n.9351T>G
NM_001204824.1:c.*7095T>G	NP_001191753.1:n.*7095T>G
NM_004519.3:c.*7095T>G	NP_004510.1:n.*7095T>G
XM_005250914.2:c.*7095T>G	XP_005250971.1:n.*7095T>G
XM_006716555.2:c.*7095T>G	XP_006716618.1:n.*7095T>G
XM_011517026.1:c.*7095T>G	XP_011515328.1:n.*7095T>G
XM_005250914.3:c.*7095T>G	XP_005250971.1:n.*7095T>G
XM_006716555.3:c.*7095T>G	XP_006716618.1:n.*7095T>G
XM_011517026.2:c.*7095T>G	XP_011515328.1:n.*7095T>G
XM_017013400.1:c.*7095T>G	XP_016868889.1:n.*7095T>G
NM_004519.4:c.*7095T>G MANE Select	NP_004510.1:n.*7095T>G
NM_001204824.2:c.*7095T>G	NP_001191753.1:n.*7095T>G