Canonical Allele Identifier: CA16621869

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 425449
• ClinVar RCV Id: RCV000488195
• dbSNP Id: rs1064797349
• gnomAD v4: 8-132174286-C-G
• MyVariant Identifiers: chr8:g.133186533C>G (hg19) ; chr8:g.132174286C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174286C>G , CM000670.2:g.132174286C>G	GRCh38
NC_000008.10:g.133186533C>G , CM000670.1:g.133186533C>G	GRCh37
NC_000008.9:g.133255715C>G	NCBI36
NG_008854.2:g.311472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.997G>C MANE Select	ENSP00000373648.3:p.Ala333Pro
ENST00000521134.6:c.637G>C	ENSP00000429799.1:p.Ala213Pro
ENST00000638588.1:c.670G>C	ENSP00000491940.1:p.Ala224Pro
ENST00000639358.1:c.647G>C
ENST00000639496.1:c.670G>C	ENSP00000491165.1:p.Ala224Pro
ENST00000388996.8:c.997G>C	ENSP00000373648.3:p.Ala333Pro
ENST00000519445.5:c.997G>C	ENSP00000428790.1:p.Ala333Pro
ENST00000519589.1:n.775G>C
ENST00000521134.5:c.637G>C	ENSP00000429799.1:p.Ala213Pro
ENST00000621976.1:c.634G>C	ENSP00000482510.1:p.Ala212Pro
NM_001204824.1:c.637G>C	NP_001191753.1:p.Ala213Pro
NM_004519.3:c.997G>C	NP_004510.1:p.Ala333Pro
XM_005250914.2:c.-160G>C	XP_005250971.1:n.-160G>C
XM_006716555.2:c.289G>C	XP_006716618.1:p.Ala97Pro
XM_011517026.1:c.637G>C	XP_011515328.1:p.Ala213Pro
XM_005250914.3:c.-160G>C	XP_005250971.1:n.-160G>C
XM_006716555.3:c.289G>C	XP_006716618.1:p.Ala97Pro
XM_011517026.2:c.637G>C	XP_011515328.1:p.Ala213Pro
XM_017013400.1:c.775G>C	XP_016868889.1:p.Ala259Pro
NM_004519.4:c.997G>C MANE Select	NP_004510.1:p.Ala333Pro
NM_001204824.2:c.637G>C	NP_001191753.1:p.Ala213Pro