Canonical Allele Identifier: CA2688627208

Gene: KCNQ3

Linked Data

• gnomAD v4: 8-132174300-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174303del , CM000670.2:g.132174303del	GRCh38
NC_000008.10:g.133186550del , CM000670.1:g.133186550del	GRCh37
NC_000008.9:g.133255732del	NCBI36
NG_008854.2:g.311457del

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.982del MANE Select	ENSP00000373648.3:p.Glu328LysfsTer4
ENST00000521134.6:c.622del	ENSP00000429799.1:p.Glu208LysfsTer4
ENST00000638588.1:c.655del	ENSP00000491940.1:p.Glu219LysfsTer4
ENST00000639358.1:c.632del
ENST00000639496.1:c.655del	ENSP00000491165.1:p.Glu219LysfsTer4
ENST00000388996.8:c.982del	ENSP00000373648.3:p.Glu328LysfsTer4
ENST00000519445.5:c.982del	ENSP00000428790.1:p.Glu328LysfsTer4
ENST00000519589.1:n.760del
ENST00000521134.5:c.622del	ENSP00000429799.1:p.Glu208LysfsTer4
ENST00000621976.1:c.619del	ENSP00000482510.1:p.Glu207LysfsTer4
NM_001204824.1:c.622del	NP_001191753.1:p.Glu208LysfsTer4
NM_004519.3:c.982del	NP_004510.1:p.Glu328LysfsTer4
XM_005250914.2:c.-175del	XP_005250971.1:n.-175del
XM_006716555.2:c.274del	XP_006716618.1:p.Glu92LysfsTer4
XM_011517026.1:c.622del	XP_011515328.1:p.Glu208LysfsTer4
XM_005250914.3:c.-175del	XP_005250971.1:n.-175del
XM_006716555.3:c.274del	XP_006716618.1:p.Glu92LysfsTer4
XM_011517026.2:c.622del	XP_011515328.1:p.Glu208LysfsTer4
XM_017013400.1:c.760del	XP_016868889.1:p.Glu254LysfsTer4
NM_004519.4:c.982del MANE Select	NP_004510.1:p.Glu328LysfsTer4
NM_001204824.2:c.622del	NP_001191753.1:p.Glu208LysfsTer4