Canonical Allele Identifier: CA591144187

Gene: KCNT1

Linked Data

• dbSNP Id: rs1564363315
• gnomAD v2: 9-138657580-C-CA
• gnomAD v4: 9-135765734-C-CA
• MyVariant Identifiers: chr9:g.138657580_138657581insA (hg19) ; chr9:g.135765734_135765735insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765737dup , CM000671.2:g.135765737dup	GRCh38
NC_000009.11:g.138657583dup , CM000671.1:g.138657583dup	GRCh37
NC_000009.10:g.137797404dup	NCBI36
NG_033070.1:g.68553dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1314dup MANE Select	ENSP00000360822.2:p.Asp439ArgfsTer?
ENST00000636003.1:c.4dup
ENST00000636995.1:n.41dup
ENST00000637798.1:n.53dup
ENST00000674572.1:c.1155dup	ENSP00000501742.1:p.Asp386ArgfsTer?
ENST00000675090.1:c.1062dup	ENSP00000501833.1:p.Asp355ArgfsTer?
ENST00000675399.1:c.1062dup	ENSP00000501932.1:p.Asp355ArgfsTer?
ENST00000676421.1:c.1071dup	ENSP00000502322.1:p.Asp358ArgfsTer?
ENST00000263604.5:c.1215dup	ENSP00000263604.4:p.Asp406ArgfsTer?
ENST00000371757.6:c.1314dup	ENSP00000360822.2:p.Asp439ArgfsTer?
ENST00000460750.5:c.*924dup	ENSP00000418777.1:n.*924dup
ENST00000486577.6:c.1197dup	ENSP00000417578.3:p.Asp400ArgfsTer?
ENST00000487664.5:c.1314dup	ENSP00000417851.2:p.Asp439ArgfsTer?
ENST00000488444.6:c.1257dup	ENSP00000419007.3:p.Asp420ArgfsTer?
ENST00000490355.6:c.1257dup	ENSP00000418003.3:p.Asp420ArgfsTer?
ENST00000490363.3:n.1133dup
ENST00000491806.6:c.1257dup	ENSP00000419086.3:p.Asp420ArgfsTer?
ENST00000628528.2:c.1179dup	ENSP00000486374.1:p.Asp394ArgfsTer?
ENST00000630792.2:c.1155dup	ENSP00000486486.1:p.Asp386ArgfsTer?
ENST00000631073.2:c.1257dup	ENSP00000486130.1:p.Asp420ArgfsTer?
NM_001272003.1:c.1179dup	NP_001258932.1:p.Asp394ArgfsTer?
NM_020822.2:c.1314dup	NP_065873.2:p.Asp439ArgfsTer?
XM_011518877.1:c.1449dup	XP_011517179.1:p.Asp484ArgfsTer?
XM_011518878.1:c.1458dup	XP_011517180.1:p.Asp487ArgfsTer?
XM_011518879.1:c.1449dup	XP_011517181.1:p.Asp484ArgfsTer?
XM_011518880.1:c.1215dup	XP_011517182.1:p.Asp406ArgfsTer?
XM_011518881.1:c.804dup	XP_011517183.1:p.Asp269ArgfsTer?
XM_011518877.3:c.1449dup	XP_011517179.1:p.Asp484ArgfsTer?
XM_011518878.3:c.1458dup	XP_011517180.1:p.Asp487ArgfsTer?
XM_011518879.3:c.1449dup	XP_011517181.1:p.Asp484ArgfsTer?
XM_011518881.3:c.804dup	XP_011517183.1:p.Asp269ArgfsTer?
XM_017014931.1:c.1248dup	XP_016870420.1:p.Asp417ArgfsTer?
XM_017014932.1:c.1071dup	XP_016870421.1:p.Asp358ArgfsTer?
XM_017014933.1:c.804dup	XP_016870422.1:p.Asp269ArgfsTer?
XM_024447617.1:c.804dup	XP_024303385.1:p.Asp269ArgfsTer?
XM_024447618.1:c.804dup	XP_024303386.1:p.Asp269ArgfsTer?
NM_020822.3:c.1314dup MANE Select	NP_065873.2:p.Asp439ArgfsTer?
NM_001272003.2:c.1179dup	NP_001258932.1:p.Asp394ArgfsTer?