Canonical Allele Identifier: CA372290309

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187708A>T (hg19) ; chr8:g.132175461A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175461A>T , CM000670.2:g.132175461A>T	GRCh38
NC_000008.10:g.133187708A>T , CM000670.1:g.133187708A>T	GRCh37
NC_000008.9:g.133256890A>T	NCBI36
NG_008854.2:g.310297T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.925T>A MANE Select	ENSP00000373648.3:p.Trp309Arg
ENST00000521134.6:c.565T>A	ENSP00000429799.1:p.Trp189Arg
ENST00000638588.1:c.598T>A	ENSP00000491940.1:p.Trp200Arg
ENST00000639358.1:c.575T>A
ENST00000639496.1:c.598T>A	ENSP00000491165.1:p.Trp200Arg
ENST00000388996.8:c.925T>A	ENSP00000373648.3:p.Trp309Arg
ENST00000519445.5:c.925T>A	ENSP00000428790.1:p.Trp309Arg
ENST00000519589.1:n.703T>A
ENST00000521134.5:c.565T>A	ENSP00000429799.1:p.Trp189Arg
ENST00000621976.1:c.562T>A	ENSP00000482510.1:p.Trp188Arg
NM_001204824.1:c.565T>A	NP_001191753.1:p.Trp189Arg
NM_004519.3:c.925T>A	NP_004510.1:p.Trp309Arg
XM_005250914.2:c.-232T>A	XP_005250971.1:n.-232T>A
XM_006716555.2:c.217T>A	XP_006716618.1:p.Trp73Arg
XM_011517026.1:c.565T>A	XP_011515328.1:p.Trp189Arg
XM_005250914.3:c.-232T>A	XP_005250971.1:n.-232T>A
XM_006716555.3:c.217T>A	XP_006716618.1:p.Trp73Arg
XM_011517026.2:c.565T>A	XP_011515328.1:p.Trp189Arg
XM_017013400.1:c.703T>A	XP_016868889.1:p.Trp235Arg
NM_004519.4:c.925T>A MANE Select	NP_004510.1:p.Trp309Arg
NM_001204824.2:c.565T>A	NP_001191753.1:p.Trp189Arg