Canonical Allele Identifier: CA10630180

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 361789
• ClinVar RCV Id: RCV000261395 ; RCV000356148
• dbSNP Id: rs886062665
• gnomAD v2: 8-133135929-C-T
• gnomAD v3: 8-132123682-C-T
• gnomAD v4: 8-132123682-C-T
• MyVariant Identifiers: chr8:g.133135929C>T (hg19) ; chr8:g.132123682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132123682C>T , CM000670.2:g.132123682C>T	GRCh38
NC_000008.10:g.133135929C>T , CM000670.1:g.133135929C>T	GRCh37
NC_000008.9:g.133205111C>T	NCBI36
NG_008854.2:g.362076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.*5580G>A MANE Select	ENSP00000373648.3:n.*5580G>A
ENST00000388996.8:c.*5580G>A	ENSP00000373648.3:n.*5580G>A
ENST00000621976.1:c.7836G>A	ENSP00000482510.1:n.7836G>A
NM_001204824.1:c.*5580G>A	NP_001191753.1:n.*5580G>A
NM_004519.3:c.*5580G>A	NP_004510.1:n.*5580G>A
XM_005250914.2:c.*5580G>A	XP_005250971.1:n.*5580G>A
XM_006716555.2:c.*5580G>A	XP_006716618.1:n.*5580G>A
XM_011517026.1:c.*5580G>A	XP_011515328.1:n.*5580G>A
XM_005250914.3:c.*5580G>A	XP_005250971.1:n.*5580G>A
XM_006716555.3:c.*5580G>A	XP_006716618.1:n.*5580G>A
XM_011517026.2:c.*5580G>A	XP_011515328.1:n.*5580G>A
XM_017013400.1:c.*5580G>A	XP_016868889.1:n.*5580G>A
NM_004519.4:c.*5580G>A MANE Select	NP_004510.1:n.*5580G>A
NM_001204824.2:c.*5580G>A	NP_001191753.1:n.*5580G>A