Canonical Allele Identifier: CA1883884932

Gene: KCNT1

Linked Data

• dbSNP Id: rs1833089951

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775391dup , CM000671.2:g.135775391dup	GRCh38
NC_000009.11:g.138667237dup , CM000671.1:g.138667237dup	GRCh37
NC_000009.10:g.137807058dup	NCBI36
NG_033070.1:g.78207dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2325dup MANE Select	ENSP00000360822.2:p.Phe776LeufsTer16
ENST00000674572.1:c.2166dup	ENSP00000501742.1:p.Phe723LeufsTer16
ENST00000675090.1:c.2073dup	ENSP00000501833.1:p.Phe692LeufsTer16
ENST00000675399.1:c.2073dup	ENSP00000501932.1:p.Phe692LeufsTer16
ENST00000676421.1:c.2082dup	ENSP00000502322.1:p.Phe695LeufsTer16
ENST00000263604.5:c.2226dup	ENSP00000263604.4:p.Phe743LeufsTer16
ENST00000371757.6:c.2325dup	ENSP00000360822.2:p.Phe776LeufsTer16
ENST00000460750.5:c.*1935dup	ENSP00000418777.1:n.*1935dup
ENST00000486577.6:c.2208dup	ENSP00000417578.3:p.Phe737LeufsTer16
ENST00000487664.5:c.2325dup	ENSP00000417851.2:p.Phe776LeufsTer16
ENST00000488444.6:c.2268dup	ENSP00000419007.3:p.Phe757LeufsTer16
ENST00000490355.6:c.2262dup	ENSP00000418003.3:p.Phe755LeufsTer16
ENST00000490363.3:n.2144dup
ENST00000491806.6:c.2268dup	ENSP00000419086.3:p.Phe757LeufsTer16
ENST00000628528.2:c.2190dup	ENSP00000486374.1:p.Phe731LeufsTer16
ENST00000630792.2:c.2160dup	ENSP00000486486.1:p.Phe721LeufsTer16
ENST00000631073.2:c.2268dup	ENSP00000486130.1:p.Phe757LeufsTer16
ENST00000631193.1:c.174dup	ENSP00000486830.1:p.Phe59LeufsTer16
NM_001272003.1:c.2190dup	NP_001258932.1:p.Phe731LeufsTer16
NM_020822.2:c.2325dup	NP_065873.2:p.Phe776LeufsTer16
XM_011518877.1:c.2460dup	XP_011517179.1:p.Phe821LeufsTer16
XM_011518878.1:c.2469dup	XP_011517180.1:p.Phe824LeufsTer16
XM_011518879.1:c.2460dup	XP_011517181.1:p.Phe821LeufsTer16
XM_011518880.1:c.2226dup	XP_011517182.1:p.Phe743LeufsTer16
XM_011518881.1:c.1815dup	XP_011517183.1:p.Phe606LeufsTer16
XM_011518877.3:c.2460dup	XP_011517179.1:p.Phe821LeufsTer16
XM_011518878.3:c.2469dup	XP_011517180.1:p.Phe824LeufsTer16
XM_011518879.3:c.2460dup	XP_011517181.1:p.Phe821LeufsTer16
XM_011518881.3:c.1815dup	XP_011517183.1:p.Phe606LeufsTer16
XM_017014931.1:c.2259dup	XP_016870420.1:p.Phe754LeufsTer16
XM_017014932.1:c.2082dup	XP_016870421.1:p.Phe695LeufsTer16
XM_017014933.1:c.1815dup	XP_016870422.1:p.Phe606LeufsTer16
XM_024447617.1:c.1815dup	XP_024303385.1:p.Phe606LeufsTer16
XM_024447618.1:c.1815dup	XP_024303386.1:p.Phe606LeufsTer16
NM_020822.3:c.2325dup MANE Select	NP_065873.2:p.Phe776LeufsTer16
NM_001272003.2:c.2190dup	NP_001258932.1:p.Phe731LeufsTer16