Canonical Allele Identifier: CA372219927

Gene: KCNQ3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132141191T>A , CM000670.2:g.132141191T>A	GRCh38
NC_000008.10:g.133153438T>A , CM000670.1:g.133153438T>A	GRCh37
NC_000008.9:g.133222620T>A	NCBI36
NG_008854.2:g.344567A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.1403A>T MANE Select	ENSP00000373648.3:p.Asn468Ile
ENST00000521134.6:c.1043A>T	ENSP00000429799.1:p.Asn348Ile
ENST00000638588.1:c.1076A>T	ENSP00000491940.1:p.Asn359Ile
ENST00000639496.1:c.*27A>T	ENSP00000491165.1:n.*27A>T
ENST00000388996.8:c.1403A>T	ENSP00000373648.3:p.Asn468Ile
ENST00000519445.5:c.1403A>T	ENSP00000428790.1:p.Asn468Ile
ENST00000519589.1:n.1181A>T
ENST00000521134.5:c.1043A>T	ENSP00000429799.1:p.Asn348Ile
ENST00000621976.1:c.1040A>T	ENSP00000482510.1:p.Asn347Ile
NM_001204824.1:c.1043A>T	NP_001191753.1:p.Asn348Ile
NM_004519.3:c.1403A>T	NP_004510.1:p.Asn468Ile
XM_005250914.2:c.158A>T	XP_005250971.1:p.Asn53Ile
XM_006716555.2:c.695A>T	XP_006716618.1:p.Asn232Ile
XM_011517026.1:c.1043A>T	XP_011515328.1:p.Asn348Ile
XM_005250914.3:c.158A>T	XP_005250971.1:p.Asn53Ile
XM_006716555.3:c.695A>T	XP_006716618.1:p.Asn232Ile
XM_011517026.2:c.1043A>T	XP_011515328.1:p.Asn348Ile
XM_017013400.1:c.1181A>T	XP_016868889.1:p.Asn394Ile
NM_004519.4:c.1403A>T MANE Select	NP_004510.1:p.Asn468Ile
NM_001204824.2:c.1043A>T	NP_001191753.1:p.Asn348Ile