Canonical Allele Identifier: CA372290308

Gene: KCNQ3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.925T>G MANE Select	ENSP00000373648.3:p.Trp309Gly
ENST00000521134.6:c.565T>G	ENSP00000429799.1:p.Trp189Gly
ENST00000638588.1:c.598T>G	ENSP00000491940.1:p.Trp200Gly
ENST00000639358.1:c.575T>G
ENST00000639496.1:c.598T>G	ENSP00000491165.1:p.Trp200Gly
ENST00000388996.8:c.925T>G	ENSP00000373648.3:p.Trp309Gly
ENST00000519445.5:c.925T>G	ENSP00000428790.1:p.Trp309Gly
ENST00000519589.1:n.703T>G
ENST00000521134.5:c.565T>G	ENSP00000429799.1:p.Trp189Gly
ENST00000621976.1:c.562T>G	ENSP00000482510.1:p.Trp188Gly
NM_001204824.1:c.565T>G	NP_001191753.1:p.Trp189Gly
NM_004519.3:c.925T>G	NP_004510.1:p.Trp309Gly
XM_005250914.2:c.-232T>G	XP_005250971.1:n.-232T>G
XM_006716555.2:c.217T>G	XP_006716618.1:p.Trp73Gly
XM_011517026.1:c.565T>G	XP_011515328.1:p.Trp189Gly
XM_005250914.3:c.-232T>G	XP_005250971.1:n.-232T>G
XM_006716555.3:c.217T>G	XP_006716618.1:p.Trp73Gly
XM_011517026.2:c.565T>G	XP_011515328.1:p.Trp189Gly
XM_017013400.1:c.703T>G	XP_016868889.1:p.Trp235Gly
NM_004519.4:c.925T>G MANE Select	NP_004510.1:p.Trp309Gly
NM_001204824.2:c.565T>G	NP_001191753.1:p.Trp189Gly