Canonical Allele Identifier: CA463070353

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 2064770
• ClinVar RCV Id: RCV002953673
• dbSNP Id: rs1826517206
• gnomAD v3: 8-132175467-G-A
• gnomAD v4: 8-132175467-G-A
• MyVariant Identifiers: chr8:g.133187714G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175467G>A , CM000670.2:g.132175467G>A	GRCh38
NC_000008.10:g.133187714G>A , CM000670.1:g.133187714G>A	GRCh37
NC_000008.9:g.133256896G>A	NCBI36
NG_008854.2:g.310291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.919C>T MANE Select	ENSP00000373648.3:p.Leu307=
ENST00000521134.6:c.559C>T	ENSP00000429799.1:p.Leu187=
ENST00000638588.1:c.592C>T	ENSP00000491940.1:p.Leu198=
ENST00000639358.1:c.569C>T
ENST00000639496.1:c.592C>T	ENSP00000491165.1:p.Leu198=
ENST00000388996.8:c.919C>T	ENSP00000373648.3:p.Leu307=
ENST00000519445.5:c.919C>T	ENSP00000428790.1:p.Leu307=
ENST00000519589.1:n.697C>T
ENST00000521134.5:c.559C>T	ENSP00000429799.1:p.Leu187=
ENST00000621976.1:c.556C>T	ENSP00000482510.1:p.Leu186=
NM_001204824.1:c.559C>T	NP_001191753.1:p.Leu187=
NM_004519.3:c.919C>T	NP_004510.1:p.Leu307=
XM_005250914.2:c.-238C>T	XP_005250971.1:n.-238C>T
XM_006716555.2:c.211C>T	XP_006716618.1:p.Leu71=
XM_011517026.1:c.559C>T	XP_011515328.1:p.Leu187=
XM_005250914.3:c.-238C>T	XP_005250971.1:n.-238C>T
XM_006716555.3:c.211C>T	XP_006716618.1:p.Leu71=
XM_011517026.2:c.559C>T	XP_011515328.1:p.Leu187=
XM_017013400.1:c.697C>T	XP_016868889.1:p.Leu233=
NM_004519.4:c.919C>T MANE Select	NP_004510.1:p.Leu307=
NM_001204824.2:c.559C>T	NP_001191753.1:p.Leu187=