Canonical Allele Identifier: CA201476136

Gene: KCNT1

Linked Data

• dbSNP Id: rs909588525
• MyVariant Identifiers: chr9:g.138667196_138667197insG (hg19) ; chr9:g.135775350_135775351insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775351dup , CM000671.2:g.135775351dup	GRCh38
NC_000009.11:g.138667197dup , CM000671.1:g.138667197dup	GRCh37
NC_000009.10:g.137807018dup	NCBI36
NG_033070.1:g.78167dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2285dup MANE Select	ENSP00000360822.2:p.Ser762ArgfsTer30
ENST00000674572.1:c.2126dup	ENSP00000501742.1:p.Ser709ArgfsTer30
ENST00000675090.1:c.2033dup	ENSP00000501833.1:p.Ser678ArgfsTer30
ENST00000675399.1:c.2033dup	ENSP00000501932.1:p.Ser678ArgfsTer30
ENST00000676421.1:c.2042dup	ENSP00000502322.1:p.Ser681ArgfsTer30
ENST00000263604.5:c.2186dup	ENSP00000263604.4:p.Ser729ArgfsTer30
ENST00000371757.6:c.2285dup	ENSP00000360822.2:p.Ser762ArgfsTer30
ENST00000460750.5:c.*1895dup	ENSP00000418777.1:n.*1895dup
ENST00000486577.6:c.2168dup	ENSP00000417578.3:p.Ser723ArgfsTer30
ENST00000487664.5:c.2285dup	ENSP00000417851.2:p.Ser762ArgfsTer30
ENST00000488444.6:c.2228dup	ENSP00000419007.3:p.Ser743ArgfsTer30
ENST00000490355.6:c.2222dup	ENSP00000418003.3:p.Ser741ArgfsTer30
ENST00000490363.3:n.2104dup
ENST00000491806.6:c.2228dup	ENSP00000419086.3:p.Ser743ArgfsTer30
ENST00000628528.2:c.2150dup	ENSP00000486374.1:p.Ser717ArgfsTer30
ENST00000630792.2:c.2120dup	ENSP00000486486.1:p.Ser707ArgfsTer30
ENST00000631073.2:c.2228dup	ENSP00000486130.1:p.Ser743ArgfsTer30
ENST00000631193.1:c.134dup	ENSP00000486830.1:p.Ser45ArgfsTer30
NM_001272003.1:c.2150dup	NP_001258932.1:p.Ser717ArgfsTer30
NM_020822.2:c.2285dup	NP_065873.2:p.Ser762ArgfsTer30
XM_011518877.1:c.2420dup	XP_011517179.1:p.Ser807ArgfsTer30
XM_011518878.1:c.2429dup	XP_011517180.1:p.Ser810ArgfsTer30
XM_011518879.1:c.2420dup	XP_011517181.1:p.Ser807ArgfsTer30
XM_011518880.1:c.2186dup	XP_011517182.1:p.Ser729ArgfsTer30
XM_011518881.1:c.1775dup	XP_011517183.1:p.Ser592ArgfsTer30
XM_011518877.3:c.2420dup	XP_011517179.1:p.Ser807ArgfsTer30
XM_011518878.3:c.2429dup	XP_011517180.1:p.Ser810ArgfsTer30
XM_011518879.3:c.2420dup	XP_011517181.1:p.Ser807ArgfsTer30
XM_011518881.3:c.1775dup	XP_011517183.1:p.Ser592ArgfsTer30
XM_017014931.1:c.2219dup	XP_016870420.1:p.Ser740ArgfsTer30
XM_017014932.1:c.2042dup	XP_016870421.1:p.Ser681ArgfsTer30
XM_017014933.1:c.1775dup	XP_016870422.1:p.Ser592ArgfsTer30
XM_024447617.1:c.1775dup	XP_024303385.1:p.Ser592ArgfsTer30
XM_024447618.1:c.1775dup	XP_024303386.1:p.Ser592ArgfsTer30
NM_020822.3:c.2285dup MANE Select	NP_065873.2:p.Ser762ArgfsTer30
NM_001272003.2:c.2150dup	NP_001258932.1:p.Ser717ArgfsTer30