Canonical Allele Identifier: CA372290318

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187713A>C (hg19) ; chr8:g.132175466A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175466A>C , CM000670.2:g.132175466A>C	GRCh38
NC_000008.10:g.133187713A>C , CM000670.1:g.133187713A>C	GRCh37
NC_000008.9:g.133256895A>C	NCBI36
NG_008854.2:g.310292T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.920T>G MANE Select	ENSP00000373648.3:p.Leu307Arg
ENST00000521134.6:c.560T>G	ENSP00000429799.1:p.Leu187Arg
ENST00000638588.1:c.593T>G	ENSP00000491940.1:p.Leu198Arg
ENST00000639358.1:c.570T>G
ENST00000639496.1:c.593T>G	ENSP00000491165.1:p.Leu198Arg
ENST00000388996.8:c.920T>G	ENSP00000373648.3:p.Leu307Arg
ENST00000519445.5:c.920T>G	ENSP00000428790.1:p.Leu307Arg
ENST00000519589.1:n.698T>G
ENST00000521134.5:c.560T>G	ENSP00000429799.1:p.Leu187Arg
ENST00000621976.1:c.557T>G	ENSP00000482510.1:p.Leu186Arg
NM_001204824.1:c.560T>G	NP_001191753.1:p.Leu187Arg
NM_004519.3:c.920T>G	NP_004510.1:p.Leu307Arg
XM_005250914.2:c.-237T>G	XP_005250971.1:n.-237T>G
XM_006716555.2:c.212T>G	XP_006716618.1:p.Leu71Arg
XM_011517026.1:c.560T>G	XP_011515328.1:p.Leu187Arg
XM_005250914.3:c.-237T>G	XP_005250971.1:n.-237T>G
XM_006716555.3:c.212T>G	XP_006716618.1:p.Leu71Arg
XM_011517026.2:c.560T>G	XP_011515328.1:p.Leu187Arg
XM_017013400.1:c.698T>G	XP_016868889.1:p.Leu233Arg
NM_004519.4:c.920T>G MANE Select	NP_004510.1:p.Leu307Arg
NM_001204824.2:c.560T>G	NP_001191753.1:p.Leu187Arg