Canonical Allele Identifier: CA4880822

Gene: KCNQ3

Linked Data

• dbSNP Id: rs756638749
• ExAC: 8:133187763 A / C
• gnomAD v4: 8-132175516-A-C
• MyVariant Identifiers: chr8:g.133187763A>C (hg19) ; chr8:g.132175516A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175516A>C , CM000670.2:g.132175516A>C	GRCh38
NC_000008.10:g.133187763A>C , CM000670.1:g.133187763A>C	GRCh37
NC_000008.9:g.133256945A>C	NCBI36
NG_008854.2:g.310242T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.870T>G MANE Select	ENSP00000373648.3:p.Asp290Glu
ENST00000521134.6:c.510T>G	ENSP00000429799.1:p.Asp170Glu
ENST00000638588.1:c.543T>G	ENSP00000491940.1:p.Asp181Glu
ENST00000639358.1:c.520T>G
ENST00000639496.1:c.543T>G	ENSP00000491165.1:p.Asp181Glu
ENST00000388996.8:c.870T>G	ENSP00000373648.3:p.Asp290Glu
ENST00000519445.5:c.870T>G	ENSP00000428790.1:p.Asp290Glu
ENST00000519589.1:n.648T>G
ENST00000521134.5:c.510T>G	ENSP00000429799.1:p.Asp170Glu
ENST00000621976.1:c.507T>G	ENSP00000482510.1:p.Asp169Glu
NM_001204824.1:c.510T>G	NP_001191753.1:p.Asp170Glu
NM_004519.3:c.870T>G	NP_004510.1:p.Asp290Glu
XM_005250914.2:c.-287T>G	XP_005250971.1:n.-287T>G
XM_006716555.2:c.162T>G	XP_006716618.1:p.Asp54Glu
XM_011517026.1:c.510T>G	XP_011515328.1:p.Asp170Glu
XM_005250914.3:c.-287T>G	XP_005250971.1:n.-287T>G
XM_006716555.3:c.162T>G	XP_006716618.1:p.Asp54Glu
XM_011517026.2:c.510T>G	XP_011515328.1:p.Asp170Glu
XM_017013400.1:c.648T>G	XP_016868889.1:p.Asp216Glu
NM_004519.4:c.870T>G MANE Select	NP_004510.1:p.Asp290Glu
NM_001204824.2:c.510T>G	NP_001191753.1:p.Asp170Glu