Canonical Allele Identifier: CA1820664021

Gene: KCNQ3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174273_132174274delinsGA , CM000670.2:g.132174273_132174274delinsGA	GRCh38
NC_000008.10:g.133186520_133186521delinsGA , CM000670.1:g.133186520_133186521delinsGA	GRCh37
NC_000008.9:g.133255702_133255703delinsGA	NCBI36
NG_008854.2:g.311484_311485delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.1009_1010delinsTC MANE Select	ENSP00000373648.3:p.Ser337=
ENST00000521134.6:c.649_650delinsTC	ENSP00000429799.1:p.Ser217=
ENST00000638588.1:c.682_683delinsTC	ENSP00000491940.1:p.Ser228=
ENST00000639358.1:c.659_660delinsTC
ENST00000639496.1:c.682_683delinsTC	ENSP00000491165.1:p.Ser228=
ENST00000388996.8:c.1009_1010delinsTC	ENSP00000373648.3:p.Ser337=
ENST00000519445.5:c.1009_1010delinsTC	ENSP00000428790.1:p.Ser337=
ENST00000519589.1:n.787_788delinsTC
ENST00000521134.5:c.649_650delinsTC	ENSP00000429799.1:p.Ser217=
ENST00000621976.1:c.646_647delinsTC	ENSP00000482510.1:p.Ser216=
NM_001204824.1:c.649_650delinsTC	NP_001191753.1:p.Ser217=
NM_004519.3:c.1009_1010delinsTC	NP_004510.1:p.Ser337=
XM_005250914.2:c.-148_-147delinsTC	XP_005250971.1:n.-148_-147delinsTC
XM_006716555.2:c.301_302delinsTC	XP_006716618.1:p.Ser101=
XM_011517026.1:c.649_650delinsTC	XP_011515328.1:p.Ser217=
XM_005250914.3:c.-148_-147delinsTC	XP_005250971.1:n.-148_-147delinsTC
XM_006716555.3:c.301_302delinsTC	XP_006716618.1:p.Ser101=
XM_011517026.2:c.649_650delinsTC	XP_011515328.1:p.Ser217=
XM_017013400.1:c.787_788delinsTC	XP_016868889.1:p.Ser263=
NM_004519.4:c.1009_1010delinsTC MANE Select	NP_004510.1:p.Ser337=
NM_001204824.2:c.649_650delinsTC	NP_001191753.1:p.Ser217=