Canonical Allele Identifier: CA372290451

Gene: KCNQ3

Linked Data

• dbSNP Id: rs1586801238
• gnomAD v4: 8-132175523-T-G
• MyVariant Identifiers: chr8:g.133187770T>G (hg19) ; chr8:g.132175523T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175523T>G , CM000670.2:g.132175523T>G	GRCh38
NC_000008.10:g.133187770T>G , CM000670.1:g.133187770T>G	GRCh37
NC_000008.9:g.133256952T>G	NCBI36
NG_008854.2:g.310235A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.863A>C MANE Select	ENSP00000373648.3:p.Glu288Ala
ENST00000521134.6:c.503A>C	ENSP00000429799.1:p.Glu168Ala
ENST00000638588.1:c.536A>C	ENSP00000491940.1:p.Glu179Ala
ENST00000639358.1:c.513A>C
ENST00000639496.1:c.536A>C	ENSP00000491165.1:p.Glu179Ala
ENST00000388996.8:c.863A>C	ENSP00000373648.3:p.Glu288Ala
ENST00000519445.5:c.863A>C	ENSP00000428790.1:p.Glu288Ala
ENST00000519589.1:n.641A>C
ENST00000521134.5:c.503A>C	ENSP00000429799.1:p.Glu168Ala
ENST00000621976.1:c.500A>C	ENSP00000482510.1:p.Glu167Ala
NM_001204824.1:c.503A>C	NP_001191753.1:p.Glu168Ala
NM_004519.3:c.863A>C	NP_004510.1:p.Glu288Ala
XM_005250914.2:c.-294A>C	XP_005250971.1:n.-294A>C
XM_006716555.2:c.155A>C	XP_006716618.1:p.Glu52Ala
XM_011517026.1:c.503A>C	XP_011515328.1:p.Glu168Ala
XM_005250914.3:c.-294A>C	XP_005250971.1:n.-294A>C
XM_006716555.3:c.155A>C	XP_006716618.1:p.Glu52Ala
XM_011517026.2:c.503A>C	XP_011515328.1:p.Glu168Ala
XM_017013400.1:c.641A>C	XP_016868889.1:p.Glu214Ala
NM_004519.4:c.863A>C MANE Select	NP_004510.1:p.Glu288Ala
NM_001204824.2:c.503A>C	NP_001191753.1:p.Glu168Ala