Canonical Allele Identifier: CA372290494

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187791A>C (hg19) ; chr8:g.132175544A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175544A>C , CM000670.2:g.132175544A>C	GRCh38
NC_000008.10:g.133187791A>C , CM000670.1:g.133187791A>C	GRCh37
NC_000008.9:g.133256973A>C	NCBI36
NG_008854.2:g.310214T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.842T>G MANE Select	ENSP00000373648.3:p.Leu281Arg
ENST00000521134.6:c.482T>G	ENSP00000429799.1:p.Leu161Arg
ENST00000638588.1:c.515T>G	ENSP00000491940.1:p.Leu172Arg
ENST00000639358.1:c.492T>G
ENST00000639496.1:c.515T>G	ENSP00000491165.1:p.Leu172Arg
ENST00000388996.8:c.842T>G	ENSP00000373648.3:p.Leu281Arg
ENST00000519445.5:c.842T>G	ENSP00000428790.1:p.Leu281Arg
ENST00000519589.1:n.620T>G
ENST00000521134.5:c.482T>G	ENSP00000429799.1:p.Leu161Arg
ENST00000621976.1:c.479T>G	ENSP00000482510.1:p.Leu160Arg
NM_001204824.1:c.482T>G	NP_001191753.1:p.Leu161Arg
NM_004519.3:c.842T>G	NP_004510.1:p.Leu281Arg
XM_005250914.2:c.-315T>G	XP_005250971.1:n.-315T>G
XM_006716555.2:c.134T>G	XP_006716618.1:p.Leu45Arg
XM_011517026.1:c.482T>G	XP_011515328.1:p.Leu161Arg
XM_005250914.3:c.-315T>G	XP_005250971.1:n.-315T>G
XM_006716555.3:c.134T>G	XP_006716618.1:p.Leu45Arg
XM_011517026.2:c.482T>G	XP_011515328.1:p.Leu161Arg
XM_017013400.1:c.620T>G	XP_016868889.1:p.Leu207Arg
NM_004519.4:c.842T>G MANE Select	NP_004510.1:p.Leu281Arg
NM_001204824.2:c.482T>G	NP_001191753.1:p.Leu161Arg