Canonical Allele Identifier: CA4880819

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 378035
• ClinVar RCV Id: RCV000419920 ; RCV001487478
• dbSNP Id: rs757426539
• ExAC: 8:133187742 T / C
• gnomAD v2: 8-133187742-T-C
• gnomAD v3: 8-132175495-T-C
• gnomAD v4: 8-132175495-T-C
• MyVariant Identifiers: chr8:g.133187742T>C (hg19) ; chr8:g.132175495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175495T>C , CM000670.2:g.132175495T>C	GRCh38
NC_000008.10:g.133187742T>C , CM000670.1:g.133187742T>C	GRCh37
NC_000008.9:g.133256924T>C	NCBI36
NG_008854.2:g.310263A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.891A>G MANE Select	ENSP00000373648.3:p.Lys297=
ENST00000521134.6:c.531A>G	ENSP00000429799.1:p.Lys177=
ENST00000638588.1:c.564A>G	ENSP00000491940.1:p.Lys188=
ENST00000639358.1:c.541A>G
ENST00000639496.1:c.564A>G	ENSP00000491165.1:p.Lys188=
ENST00000388996.8:c.891A>G	ENSP00000373648.3:p.Lys297=
ENST00000519445.5:c.891A>G	ENSP00000428790.1:p.Lys297=
ENST00000519589.1:n.669A>G
ENST00000521134.5:c.531A>G	ENSP00000429799.1:p.Lys177=
ENST00000621976.1:c.528A>G	ENSP00000482510.1:p.Lys176=
NM_001204824.1:c.531A>G	NP_001191753.1:p.Lys177=
NM_004519.3:c.891A>G	NP_004510.1:p.Lys297=
XM_005250914.2:c.-266A>G	XP_005250971.1:n.-266A>G
XM_006716555.2:c.183A>G	XP_006716618.1:p.Lys61=
XM_011517026.1:c.531A>G	XP_011515328.1:p.Lys177=
XM_005250914.3:c.-266A>G	XP_005250971.1:n.-266A>G
XM_006716555.3:c.183A>G	XP_006716618.1:p.Lys61=
XM_011517026.2:c.531A>G	XP_011515328.1:p.Lys177=
XM_017013400.1:c.669A>G	XP_016868889.1:p.Lys223=
NM_004519.4:c.891A>G MANE Select	NP_004510.1:p.Lys297=
NM_001204824.2:c.531A>G	NP_001191753.1:p.Lys177=