Canonical Allele Identifier: CA10630103

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 361753
• ClinVar RCV Id: RCV000338198 ; RCV000405060
• dbSNP Id: rs111267263
• gnomAD v2: 8-133134096-C-G
• gnomAD v3: 8-132121849-C-G
• gnomAD v4: 8-132121849-C-G
• MyVariant Identifiers: chr8:g.133134096C>G (hg19) ; chr8:g.132121849C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132121849C>G , CM000670.2:g.132121849C>G	GRCh38
NC_000008.10:g.133134096C>G , CM000670.1:g.133134096C>G	GRCh37
NC_000008.9:g.133203278C>G	NCBI36
NG_008854.2:g.363909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.*7413G>C MANE Select	ENSP00000373648.3:n.*7413G>C
ENST00000388996.8:c.*7413G>C	ENSP00000373648.3:n.*7413G>C
ENST00000621976.1:c.9669G>C	ENSP00000482510.1:n.9669G>C
NM_001204824.1:c.*7413G>C	NP_001191753.1:n.*7413G>C
NM_004519.3:c.*7413G>C	NP_004510.1:n.*7413G>C
XM_005250914.2:c.*7413G>C	XP_005250971.1:n.*7413G>C
XM_006716555.2:c.*7413G>C	XP_006716618.1:n.*7413G>C
XM_011517026.1:c.*7413G>C	XP_011515328.1:n.*7413G>C
XM_005250914.3:c.*7413G>C	XP_005250971.1:n.*7413G>C
XM_006716555.3:c.*7413G>C	XP_006716618.1:n.*7413G>C
XM_011517026.2:c.*7413G>C	XP_011515328.1:n.*7413G>C
XM_017013400.1:c.*7413G>C	XP_016868889.1:n.*7413G>C
NM_004519.4:c.*7413G>C MANE Select	NP_004510.1:n.*7413G>C
NM_001204824.2:c.*7413G>C	NP_001191753.1:n.*7413G>C