Canonical Allele Identifier: CA10630113

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 361764
• ClinVar RCV Id: RCV000313012 ; RCV000367650
• dbSNP Id: rs2436128
• gnomAD v2: 8-133134476-A-G
• gnomAD v3: 8-132122229-A-G
• gnomAD v4: 8-132122229-A-G
• MyVariant Identifiers: chr8:g.133134476A>G (hg19) ; chr8:g.132122229A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132122229A>G , CM000670.2:g.132122229A>G	GRCh38
NC_000008.10:g.133134476A>G , CM000670.1:g.133134476A>G	GRCh37
NC_000008.9:g.133203658A>G	NCBI36
NG_008854.2:g.363529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.*7033T>C MANE Select	ENSP00000373648.3:n.*7033T>C
ENST00000388996.8:c.*7033T>C	ENSP00000373648.3:n.*7033T>C
ENST00000621976.1:c.9289T>C	ENSP00000482510.1:n.9289T>C
NM_001204824.1:c.*7033T>C	NP_001191753.1:n.*7033T>C
NM_004519.3:c.*7033T>C	NP_004510.1:n.*7033T>C
XM_005250914.2:c.*7033T>C	XP_005250971.1:n.*7033T>C
XM_006716555.2:c.*7033T>C	XP_006716618.1:n.*7033T>C
XM_011517026.1:c.*7033T>C	XP_011515328.1:n.*7033T>C
XM_005250914.3:c.*7033T>C	XP_005250971.1:n.*7033T>C
XM_006716555.3:c.*7033T>C	XP_006716618.1:n.*7033T>C
XM_011517026.2:c.*7033T>C	XP_011515328.1:n.*7033T>C
XM_017013400.1:c.*7033T>C	XP_016868889.1:n.*7033T>C
NM_004519.4:c.*7033T>C MANE Select	NP_004510.1:n.*7033T>C
NM_001204824.2:c.*7033T>C	NP_001191753.1:n.*7033T>C