Canonical Allele Identifier: CA2953904977

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765094dup , CM000671.2:g.135765094dup	GRCh38
NC_000009.11:g.138656940dup , CM000671.1:g.138656940dup	GRCh37
NC_000009.10:g.137796761dup	NCBI36
NG_033070.1:g.67910dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1099dup MANE Select	ENSP00000360822.2:p.Arg367ProfsTer?
ENST00000674572.1:c.940dup	ENSP00000501742.1:p.Arg314ProfsTer?
ENST00000675090.1:c.847dup	ENSP00000501833.1:p.Arg283ProfsTer?
ENST00000675399.1:c.847dup	ENSP00000501932.1:p.Arg283ProfsTer?
ENST00000676421.1:c.856dup	ENSP00000502322.1:p.Arg286ProfsTer?
ENST00000263604.5:c.1000dup	ENSP00000263604.4:p.Arg334ProfsTer?
ENST00000371757.6:c.1099dup	ENSP00000360822.2:p.Arg367ProfsTer?
ENST00000460750.5:c.*709dup	ENSP00000418777.1:n.*709dup
ENST00000486577.6:c.982dup	ENSP00000417578.3:p.Arg328ProfsTer?
ENST00000487664.5:c.1099dup	ENSP00000417851.2:p.Arg367ProfsTer?
ENST00000488444.6:c.1042dup	ENSP00000419007.3:p.Arg348ProfsTer?
ENST00000490355.6:c.1042dup	ENSP00000418003.3:p.Arg348ProfsTer?
ENST00000490363.3:n.918dup
ENST00000491806.6:c.1042dup	ENSP00000419086.3:p.Arg348ProfsTer?
ENST00000628528.2:c.964dup	ENSP00000486374.1:p.Arg322ProfsTer?
ENST00000630792.2:c.940dup	ENSP00000486486.1:p.Arg314ProfsTer?
ENST00000631073.2:c.1042dup	ENSP00000486130.1:p.Arg348ProfsTer?
NM_001272003.1:c.964dup	NP_001258932.1:p.Arg322ProfsTer?
NM_020822.2:c.1099dup	NP_065873.2:p.Arg367ProfsTer?
XM_011518877.1:c.1234dup	XP_011517179.1:p.Arg412ProfsTer?
XM_011518878.1:c.1243dup	XP_011517180.1:p.Arg415ProfsTer?
XM_011518879.1:c.1234dup	XP_011517181.1:p.Arg412ProfsTer?
XM_011518880.1:c.1000dup	XP_011517182.1:p.Arg334ProfsTer?
XM_011518881.1:c.589dup	XP_011517183.1:p.Arg197ProfsTer?
XM_011518877.3:c.1234dup	XP_011517179.1:p.Arg412ProfsTer?
XM_011518878.3:c.1243dup	XP_011517180.1:p.Arg415ProfsTer?
XM_011518879.3:c.1234dup	XP_011517181.1:p.Arg412ProfsTer?
XM_011518881.3:c.589dup	XP_011517183.1:p.Arg197ProfsTer?
XM_017014931.1:c.1033dup	XP_016870420.1:p.Arg345ProfsTer?
XM_017014932.1:c.856dup	XP_016870421.1:p.Arg286ProfsTer?
XM_017014933.1:c.589dup	XP_016870422.1:p.Arg197ProfsTer?
XM_024447617.1:c.589dup	XP_024303385.1:p.Arg197ProfsTer?
XM_024447618.1:c.589dup	XP_024303386.1:p.Arg197ProfsTer?
NM_020822.3:c.1099dup MANE Select	NP_065873.2:p.Arg367ProfsTer?
NM_001272003.2:c.964dup	NP_001258932.1:p.Arg322ProfsTer?