Canonical Allele Identifier: CA4880818

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 508697
• ClinVar RCV Id: RCV000611921 ; RCV001496740 ; RCV003437304
• dbSNP Id: rs367611806
• ExAC: 8:133187736 C / T
• gnomAD v2: 8-133187736-C-T
• gnomAD v3: 8-132175489-C-T
• gnomAD v4: 8-132175489-C-T
• MyVariant Identifiers: chr8:g.133187736C>T (hg19) ; chr8:g.132175489C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175489C>T , CM000670.2:g.132175489C>T	GRCh38
NC_000008.10:g.133187736C>T , CM000670.1:g.133187736C>T	GRCh37
NC_000008.9:g.133256918C>T	NCBI36
NG_008854.2:g.310269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.897G>A MANE Select	ENSP00000373648.3:p.Glu299=
ENST00000521134.6:c.537G>A	ENSP00000429799.1:p.Glu179=
ENST00000638588.1:c.570G>A	ENSP00000491940.1:p.Glu190=
ENST00000639358.1:c.547G>A
ENST00000639496.1:c.570G>A	ENSP00000491165.1:p.Glu190=
ENST00000388996.8:c.897G>A	ENSP00000373648.3:p.Glu299=
ENST00000519445.5:c.897G>A	ENSP00000428790.1:p.Glu299=
ENST00000519589.1:n.675G>A
ENST00000521134.5:c.537G>A	ENSP00000429799.1:p.Glu179=
ENST00000621976.1:c.534G>A	ENSP00000482510.1:p.Glu178=
NM_001204824.1:c.537G>A	NP_001191753.1:p.Glu179=
NM_004519.3:c.897G>A	NP_004510.1:p.Glu299=
XM_005250914.2:c.-260G>A	XP_005250971.1:n.-260G>A
XM_006716555.2:c.189G>A	XP_006716618.1:p.Glu63=
XM_011517026.1:c.537G>A	XP_011515328.1:p.Glu179=
XM_005250914.3:c.-260G>A	XP_005250971.1:n.-260G>A
XM_006716555.3:c.189G>A	XP_006716618.1:p.Glu63=
XM_011517026.2:c.537G>A	XP_011515328.1:p.Glu179=
XM_017013400.1:c.675G>A	XP_016868889.1:p.Glu225=
NM_004519.4:c.897G>A MANE Select	NP_004510.1:p.Glu299=
NM_001204824.2:c.537G>A	NP_001191753.1:p.Glu179=