Canonical Allele Identifier: CA463070391

Gene: KCNQ3

Linked Data

• gnomAD v4: 8-132175543-C-G
• MyVariant Identifiers: chr8:g.133187790C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175543C>G , CM000670.2:g.132175543C>G	GRCh38
NC_000008.10:g.133187790C>G , CM000670.1:g.133187790C>G	GRCh37
NC_000008.9:g.133256972C>G	NCBI36
NG_008854.2:g.310215G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.843G>C MANE Select	ENSP00000373648.3:p.Leu281=
ENST00000521134.6:c.483G>C	ENSP00000429799.1:p.Leu161=
ENST00000638588.1:c.516G>C	ENSP00000491940.1:p.Leu172=
ENST00000639358.1:c.493G>C
ENST00000639496.1:c.516G>C	ENSP00000491165.1:p.Leu172=
ENST00000388996.8:c.843G>C	ENSP00000373648.3:p.Leu281=
ENST00000519445.5:c.843G>C	ENSP00000428790.1:p.Leu281=
ENST00000519589.1:n.621G>C
ENST00000521134.5:c.483G>C	ENSP00000429799.1:p.Leu161=
ENST00000621976.1:c.480G>C	ENSP00000482510.1:p.Leu160=
NM_001204824.1:c.483G>C	NP_001191753.1:p.Leu161=
NM_004519.3:c.843G>C	NP_004510.1:p.Leu281=
XM_005250914.2:c.-314G>C	XP_005250971.1:n.-314G>C
XM_006716555.2:c.135G>C	XP_006716618.1:p.Leu45=
XM_011517026.1:c.483G>C	XP_011515328.1:p.Leu161=
XM_005250914.3:c.-314G>C	XP_005250971.1:n.-314G>C
XM_006716555.3:c.135G>C	XP_006716618.1:p.Leu45=
XM_011517026.2:c.483G>C	XP_011515328.1:p.Leu161=
XM_017013400.1:c.621G>C	XP_016868889.1:p.Leu207=
NM_004519.4:c.843G>C MANE Select	NP_004510.1:p.Leu281=
NM_001204824.2:c.483G>C	NP_001191753.1:p.Leu161=