Canonical Allele Identifier: CA860991838

Gene: KCNT1

Linked Data

• dbSNP Id: rs1399211359
• gnomAD v3: 9-135775357-CA-C
• gnomAD v4: 9-135775357-CA-C
• MyVariant Identifiers: chr9:g.138667204del (hg19) ; chr9:g.135775358del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775359del , CM000671.2:g.135775359del	GRCh38
NC_000009.11:g.138667205del , CM000671.1:g.138667205del	GRCh37
NC_000009.10:g.137807026del	NCBI36
NG_033070.1:g.78175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2293del MANE Select	ENSP00000360822.2:p.Thr765ProfsTer8
ENST00000674572.1:c.2134del	ENSP00000501742.1:p.Thr712ProfsTer8
ENST00000675090.1:c.2041del	ENSP00000501833.1:p.Thr681ProfsTer8
ENST00000675399.1:c.2041del	ENSP00000501932.1:p.Thr681ProfsTer8
ENST00000676421.1:c.2050del	ENSP00000502322.1:p.Thr684ProfsTer8
ENST00000263604.5:c.2194del	ENSP00000263604.4:p.Thr732ProfsTer8
ENST00000371757.6:c.2293del	ENSP00000360822.2:p.Thr765ProfsTer8
ENST00000460750.5:c.*1903del	ENSP00000418777.1:n.*1903del
ENST00000486577.6:c.2176del	ENSP00000417578.3:p.Thr726ProfsTer8
ENST00000487664.5:c.2293del	ENSP00000417851.2:p.Thr765ProfsTer8
ENST00000488444.6:c.2236del	ENSP00000419007.3:p.Thr746ProfsTer8
ENST00000490355.6:c.2230del	ENSP00000418003.3:p.Thr744ProfsTer8
ENST00000490363.3:n.2112del
ENST00000491806.6:c.2236del	ENSP00000419086.3:p.Thr746ProfsTer8
ENST00000628528.2:c.2158del	ENSP00000486374.1:p.Thr720ProfsTer8
ENST00000630792.2:c.2128del	ENSP00000486486.1:p.Thr710ProfsTer8
ENST00000631073.2:c.2236del	ENSP00000486130.1:p.Thr746ProfsTer8
ENST00000631193.1:c.142del	ENSP00000486830.1:p.Thr48ProfsTer8
NM_001272003.1:c.2158del	NP_001258932.1:p.Thr720ProfsTer8
NM_020822.2:c.2293del	NP_065873.2:p.Thr765ProfsTer8
XM_011518877.1:c.2428del	XP_011517179.1:p.Thr810ProfsTer8
XM_011518878.1:c.2437del	XP_011517180.1:p.Thr813ProfsTer8
XM_011518879.1:c.2428del	XP_011517181.1:p.Thr810ProfsTer8
XM_011518880.1:c.2194del	XP_011517182.1:p.Thr732ProfsTer8
XM_011518881.1:c.1783del	XP_011517183.1:p.Thr595ProfsTer8
XM_011518877.3:c.2428del	XP_011517179.1:p.Thr810ProfsTer8
XM_011518878.3:c.2437del	XP_011517180.1:p.Thr813ProfsTer8
XM_011518879.3:c.2428del	XP_011517181.1:p.Thr810ProfsTer8
XM_011518881.3:c.1783del	XP_011517183.1:p.Thr595ProfsTer8
XM_017014931.1:c.2227del	XP_016870420.1:p.Thr743ProfsTer8
XM_017014932.1:c.2050del	XP_016870421.1:p.Thr684ProfsTer8
XM_017014933.1:c.1783del	XP_016870422.1:p.Thr595ProfsTer8
XM_024447617.1:c.1783del	XP_024303385.1:p.Thr595ProfsTer8
XM_024447618.1:c.1783del	XP_024303386.1:p.Thr595ProfsTer8
NM_020822.3:c.2293del MANE Select	NP_065873.2:p.Thr765ProfsTer8
NM_001272003.2:c.2158del	NP_001258932.1:p.Thr720ProfsTer8