Canonical Allele Identifier: CA372290160

Gene: KCNQ3

Linked Data

• gnomAD v4: 8-132174297-C-T
• MyVariant Identifiers: chr8:g.133186544C>T (hg19) ; chr8:g.132174297C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174297C>T , CM000670.2:g.132174297C>T	GRCh38
NC_000008.10:g.133186544C>T , CM000670.1:g.133186544C>T	GRCh37
NC_000008.9:g.133255726C>T	NCBI36
NG_008854.2:g.311461G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.986G>A MANE Select	ENSP00000373648.3:p.Gly329Asp
ENST00000521134.6:c.626G>A	ENSP00000429799.1:p.Gly209Asp
ENST00000638588.1:c.659G>A	ENSP00000491940.1:p.Gly220Asp
ENST00000639358.1:c.636G>A
ENST00000639496.1:c.659G>A	ENSP00000491165.1:p.Gly220Asp
ENST00000388996.8:c.986G>A	ENSP00000373648.3:p.Gly329Asp
ENST00000519445.5:c.986G>A	ENSP00000428790.1:p.Gly329Asp
ENST00000519589.1:n.764G>A
ENST00000521134.5:c.626G>A	ENSP00000429799.1:p.Gly209Asp
ENST00000621976.1:c.623G>A	ENSP00000482510.1:p.Gly208Asp
NM_001204824.1:c.626G>A	NP_001191753.1:p.Gly209Asp
NM_004519.3:c.986G>A	NP_004510.1:p.Gly329Asp
XM_005250914.2:c.-171G>A	XP_005250971.1:n.-171G>A
XM_006716555.2:c.278G>A	XP_006716618.1:p.Gly93Asp
XM_011517026.1:c.626G>A	XP_011515328.1:p.Gly209Asp
XM_005250914.3:c.-171G>A	XP_005250971.1:n.-171G>A
XM_006716555.3:c.278G>A	XP_006716618.1:p.Gly93Asp
XM_011517026.2:c.626G>A	XP_011515328.1:p.Gly209Asp
XM_017013400.1:c.764G>A	XP_016868889.1:p.Gly255Asp
NM_004519.4:c.986G>A MANE Select	NP_004510.1:p.Gly329Asp
NM_001204824.2:c.626G>A	NP_001191753.1:p.Gly209Asp