Canonical Allele Identifier: CA372219363

Gene: KCNQ3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132138009G>A , CM000670.2:g.132138009G>A	GRCh38
NC_000008.10:g.133150256G>A , CM000670.1:g.133150256G>A	GRCh37
NC_000008.9:g.133219438G>A	NCBI36
NG_008854.2:g.347749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.1576C>T MANE Select	ENSP00000373648.3:p.Gln526Ter
ENST00000521134.6:c.1216C>T	ENSP00000429799.1:p.Gln406Ter
ENST00000638588.1:c.1249C>T	ENSP00000491940.1:p.Gln417Ter
ENST00000639496.1:c.*200C>T	ENSP00000491165.1:n.*200C>T
ENST00000388996.8:c.1576C>T	ENSP00000373648.3:p.Gln526Ter
ENST00000519445.5:c.1576C>T	ENSP00000428790.1:p.Gln526Ter
ENST00000519589.1:n.2304C>T
ENST00000521134.5:c.1216C>T	ENSP00000429799.1:p.Gln406Ter
ENST00000621976.1:c.1213C>T	ENSP00000482510.1:p.Gln405Ter
NM_001204824.1:c.1216C>T	NP_001191753.1:p.Gln406Ter
NM_004519.3:c.1576C>T	NP_004510.1:p.Gln526Ter
XM_005250914.2:c.331C>T	XP_005250971.1:p.Gln111Ter
XM_006716555.2:c.868C>T	XP_006716618.1:p.Gln290Ter
XM_011517026.1:c.1216C>T	XP_011515328.1:p.Gln406Ter
XM_005250914.3:c.331C>T	XP_005250971.1:p.Gln111Ter
XM_006716555.3:c.868C>T	XP_006716618.1:p.Gln290Ter
XM_011517026.2:c.1216C>T	XP_011515328.1:p.Gln406Ter
XM_017013400.1:c.1354C>T	XP_016868889.1:p.Gln452Ter
NM_004519.4:c.1576C>T MANE Select	NP_004510.1:p.Gln526Ter
NM_001204824.2:c.1216C>T	NP_001191753.1:p.Gln406Ter