Canonical Allele Identifier: CA2740092932

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2954004
• ClinVar RCV Id: RCV003813227

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769976_135769979dup , CM000671.2:g.135769976_135769979dup	GRCh38
NC_000009.11:g.138661822_138661825dup , CM000671.1:g.138661822_138661825dup	GRCh37
NC_000009.10:g.137801643_137801646dup	NCBI36
NG_033070.1:g.72792_72795dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1540_1543dup MANE Select	ENSP00000360822.2:p.Ala515ValfsTer?
ENST00000674572.1:c.1381_1384dup	ENSP00000501742.1:p.Ala462ValfsTer?
ENST00000675090.1:c.1288_1291dup	ENSP00000501833.1:p.Ala431ValfsTer?
ENST00000675399.1:c.1288_1291dup	ENSP00000501932.1:p.Ala431ValfsTer?
ENST00000676421.1:c.1297_1300dup	ENSP00000502322.1:p.Ala434ValfsTer?
ENST00000263604.5:c.1441_1444dup	ENSP00000263604.4:p.Ala482ValfsTer?
ENST00000371757.6:c.1540_1543dup	ENSP00000360822.2:p.Ala515ValfsTer?
ENST00000460750.5:c.*1150_*1153dup	ENSP00000418777.1:n.*1150_*1153dup
ENST00000486577.6:c.1423_1426dup	ENSP00000417578.3:p.Ala476ValfsTer?
ENST00000487664.5:c.1540_1543dup	ENSP00000417851.2:p.Ala515ValfsTer?
ENST00000488444.6:c.1483_1486dup	ENSP00000419007.3:p.Ala496ValfsTer?
ENST00000490355.6:c.1483_1486dup	ENSP00000418003.3:p.Ala496ValfsTer?
ENST00000490363.3:n.1359_1362dup
ENST00000491806.6:c.1483_1486dup	ENSP00000419086.3:p.Ala496ValfsTer?
ENST00000628528.2:c.1405_1408dup	ENSP00000486374.1:p.Ala470ValfsTer?
ENST00000630792.2:c.1381_1384dup	ENSP00000486486.1:p.Ala462ValfsTer?
ENST00000631073.2:c.1483_1486dup	ENSP00000486130.1:p.Ala496ValfsTer?
NM_001272003.1:c.1405_1408dup	NP_001258932.1:p.Ala470ValfsTer?
NM_020822.2:c.1540_1543dup	NP_065873.2:p.Ala515ValfsTer?
XM_011518877.1:c.1675_1678dup	XP_011517179.1:p.Ala560ValfsTer?
XM_011518878.1:c.1684_1687dup	XP_011517180.1:p.Ala563ValfsTer?
XM_011518879.1:c.1675_1678dup	XP_011517181.1:p.Ala560ValfsTer?
XM_011518880.1:c.1441_1444dup	XP_011517182.1:p.Ala482ValfsTer?
XM_011518881.1:c.1030_1033dup	XP_011517183.1:p.Ala345ValfsTer?
XM_011518877.3:c.1675_1678dup	XP_011517179.1:p.Ala560ValfsTer?
XM_011518878.3:c.1684_1687dup	XP_011517180.1:p.Ala563ValfsTer?
XM_011518879.3:c.1675_1678dup	XP_011517181.1:p.Ala560ValfsTer?
XM_011518881.3:c.1030_1033dup	XP_011517183.1:p.Ala345ValfsTer?
XM_017014931.1:c.1474_1477dup	XP_016870420.1:p.Ala493ValfsTer?
XM_017014932.1:c.1297_1300dup	XP_016870421.1:p.Ala434ValfsTer?
XM_017014933.1:c.1030_1033dup	XP_016870422.1:p.Ala345ValfsTer?
XM_024447617.1:c.1030_1033dup	XP_024303385.1:p.Ala345ValfsTer?
XM_024447618.1:c.1030_1033dup	XP_024303386.1:p.Ala345ValfsTer?
NM_020822.3:c.1540_1543dup MANE Select	NP_065873.2:p.Ala515ValfsTer?
NM_001272003.2:c.1405_1408dup	NP_001258932.1:p.Ala470ValfsTer?