Canonical Allele Identifier: CA4880820

Gene: KCNQ3

Linked Data

• dbSNP Id: rs767637969
• ExAC: 8:133187748 C / A
• gnomAD v2: 8-133187748-C-A
• gnomAD v4: 8-132175501-C-A
• MyVariant Identifiers: chr8:g.133187748C>A (hg19) ; chr8:g.132175501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175501C>A , CM000670.2:g.132175501C>A	GRCh38
NC_000008.10:g.133187748C>A , CM000670.1:g.133187748C>A	GRCh37
NC_000008.9:g.133256930C>A	NCBI36
NG_008854.2:g.310257G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.885G>T MANE Select	ENSP00000373648.3:p.Glu295Asp
ENST00000521134.6:c.525G>T	ENSP00000429799.1:p.Glu175Asp
ENST00000638588.1:c.558G>T	ENSP00000491940.1:p.Glu186Asp
ENST00000639358.1:c.535G>T
ENST00000639496.1:c.558G>T	ENSP00000491165.1:p.Glu186Asp
ENST00000388996.8:c.885G>T	ENSP00000373648.3:p.Glu295Asp
ENST00000519445.5:c.885G>T	ENSP00000428790.1:p.Glu295Asp
ENST00000519589.1:n.663G>T
ENST00000521134.5:c.525G>T	ENSP00000429799.1:p.Glu175Asp
ENST00000621976.1:c.522G>T	ENSP00000482510.1:p.Glu174Asp
NM_001204824.1:c.525G>T	NP_001191753.1:p.Glu175Asp
NM_004519.3:c.885G>T	NP_004510.1:p.Glu295Asp
XM_005250914.2:c.-272G>T	XP_005250971.1:n.-272G>T
XM_006716555.2:c.177G>T	XP_006716618.1:p.Glu59Asp
XM_011517026.1:c.525G>T	XP_011515328.1:p.Glu175Asp
XM_005250914.3:c.-272G>T	XP_005250971.1:n.-272G>T
XM_006716555.3:c.177G>T	XP_006716618.1:p.Glu59Asp
XM_011517026.2:c.525G>T	XP_011515328.1:p.Glu175Asp
XM_017013400.1:c.663G>T	XP_016868889.1:p.Glu221Asp
NM_004519.4:c.885G>T MANE Select	NP_004510.1:p.Glu295Asp
NM_001204824.2:c.525G>T	NP_001191753.1:p.Glu175Asp