Canonical Allele Identifier: CA315597

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 205965
• ClinVar RCV Id: RCV000187970 ; RCV000647889
• dbSNP Id: rs549372035
• ExAC: 8:133187777 C / T
• gnomAD v2: 8-133187777-C-T
• gnomAD v3: 8-132175530-C-T
• gnomAD v4: 8-132175530-C-T
• COSMIC: COSM4806807
• MyVariant Identifiers: chr8:g.133187777C>T (hg19) ; chr8:g.132175530C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175530C>T , CM000670.2:g.132175530C>T	GRCh38
NC_000008.10:g.133187777C>T , CM000670.1:g.133187777C>T	GRCh37
NC_000008.9:g.133256959C>T	NCBI36
NG_008854.2:g.310228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.856G>A MANE Select	ENSP00000373648.3:p.Val286Ile
ENST00000521134.6:c.496G>A	ENSP00000429799.1:p.Val166Ile
ENST00000638588.1:c.529G>A	ENSP00000491940.1:p.Val177Ile
ENST00000639358.1:c.506G>A
ENST00000639496.1:c.529G>A	ENSP00000491165.1:p.Val177Ile
ENST00000388996.8:c.856G>A	ENSP00000373648.3:p.Val286Ile
ENST00000519445.5:c.856G>A	ENSP00000428790.1:p.Val286Ile
ENST00000519589.1:n.634G>A
ENST00000521134.5:c.496G>A	ENSP00000429799.1:p.Val166Ile
ENST00000621976.1:c.493G>A	ENSP00000482510.1:p.Val165Ile
NM_001204824.1:c.496G>A	NP_001191753.1:p.Val166Ile
NM_004519.3:c.856G>A	NP_004510.1:p.Val286Ile
XM_005250914.2:c.-301G>A	XP_005250971.1:n.-301G>A
XM_006716555.2:c.148G>A	XP_006716618.1:p.Val50Ile
XM_011517026.1:c.496G>A	XP_011515328.1:p.Val166Ile
XM_005250914.3:c.-301G>A	XP_005250971.1:n.-301G>A
XM_006716555.3:c.148G>A	XP_006716618.1:p.Val50Ile
XM_011517026.2:c.496G>A	XP_011515328.1:p.Val166Ile
XM_017013400.1:c.634G>A	XP_016868889.1:p.Val212Ile
NM_004519.4:c.856G>A MANE Select	NP_004510.1:p.Val286Ile
NM_001204824.2:c.496G>A	NP_001191753.1:p.Val166Ile