Canonical Allele Identifier: CA4880834

Gene: KCNQ3

Linked Data

• dbSNP Id: rs200275606
• ExAC: 8:133187841 G / C
• gnomAD v2: 8-133187841-G-C
• gnomAD v3: 8-132175594-G-C
• gnomAD v4: 8-132175594-G-C
• MyVariant Identifiers: chr8:g.133187841G>C (hg19) ; chr8:g.132175594G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175594G>C , CM000670.2:g.132175594G>C	GRCh38
NC_000008.10:g.133187841G>C , CM000670.1:g.133187841G>C	GRCh37
NC_000008.9:g.133257023G>C	NCBI36
NG_008854.2:g.310164C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.792C>G MANE Select	ENSP00000373648.3:p.Ala264=
ENST00000521134.6:c.432C>G	ENSP00000429799.1:p.Ala144=
ENST00000638588.1:c.465C>G	ENSP00000491940.1:p.Ala155=
ENST00000639358.1:c.442C>G
ENST00000639496.1:c.465C>G	ENSP00000491165.1:p.Ala155=
ENST00000388996.8:c.792C>G	ENSP00000373648.3:p.Ala264=
ENST00000519445.5:c.792C>G	ENSP00000428790.1:p.Ala264=
ENST00000519589.1:n.570C>G
ENST00000521134.5:c.432C>G	ENSP00000429799.1:p.Ala144=
ENST00000621976.1:c.429C>G	ENSP00000482510.1:p.Ala143=
NM_001204824.1:c.432C>G	NP_001191753.1:p.Ala144=
NM_004519.3:c.792C>G	NP_004510.1:p.Ala264=
XM_005250914.2:c.-365C>G	XP_005250971.1:n.-365C>G
XM_006716555.2:c.84C>G	XP_006716618.1:p.Ala28=
XM_011517026.1:c.432C>G	XP_011515328.1:p.Ala144=
XM_005250914.3:c.-365C>G	XP_005250971.1:n.-365C>G
XM_006716555.3:c.84C>G	XP_006716618.1:p.Ala28=
XM_011517026.2:c.432C>G	XP_011515328.1:p.Ala144=
XM_017013400.1:c.570C>G	XP_016868889.1:p.Ala190=
NM_004519.4:c.792C>G MANE Select	NP_004510.1:p.Ala264=
NM_001204824.2:c.432C>G	NP_001191753.1:p.Ala144=