Canonical Allele Identifier: CA591147001

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 540578
• ClinVar RCV Id: RCV000650648
• dbSNP Id: rs1390654782
• gnomAD v2: 9-138667239-TCTG-T
• gnomAD v3: 9-135775393-TCTG-T
• gnomAD v4: 9-135775393-TCTG-T
• MyVariant Identifiers: chr9:g.138667244_138667246del (hg19) ; chr9:g.138667240_138667242del (hg19) ; chr9:g.135775398_135775400del (hg38) ; chr9:g.135775394_135775396del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775398_135775400del , CM000671.2:g.135775398_135775400del	GRCh38
NC_000009.11:g.138667244_138667246del , CM000671.1:g.138667244_138667246del	GRCh37
NC_000009.10:g.137807065_137807067del	NCBI36
NG_033070.1:g.78214_78216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2332_2334del MANE Select	ENSP00000360822.2:p.Cys778del
ENST00000674572.1:c.2173_2175del	ENSP00000501742.1:p.Cys725del
ENST00000675090.1:c.2080_2082del	ENSP00000501833.1:p.Cys694del
ENST00000675399.1:c.2080_2082del	ENSP00000501932.1:p.Cys694del
ENST00000676421.1:c.2089_2091del	ENSP00000502322.1:p.Cys697del
ENST00000263604.5:c.2233_2235del	ENSP00000263604.4:p.Cys745del
ENST00000371757.6:c.2332_2334del	ENSP00000360822.2:p.Cys778del
ENST00000460750.5:c.*1942_*1944del	ENSP00000418777.1:n.*1942_*1944del
ENST00000486577.6:c.2215_2217del	ENSP00000417578.3:p.Cys739del
ENST00000487664.5:c.2332_2334del	ENSP00000417851.2:p.Cys778del
ENST00000488444.6:c.2275_2277del	ENSP00000419007.3:p.Cys759del
ENST00000490355.6:c.2269_2271del	ENSP00000418003.3:p.Cys757del
ENST00000490363.3:n.2151_2153del
ENST00000491806.6:c.2275_2277del	ENSP00000419086.3:p.Cys759del
ENST00000628528.2:c.2197_2199del	ENSP00000486374.1:p.Cys733del
ENST00000630792.2:c.2167_2169del	ENSP00000486486.1:p.Cys723del
ENST00000631073.2:c.2275_2277del	ENSP00000486130.1:p.Cys759del
ENST00000631193.1:c.181_183del	ENSP00000486830.1:p.Cys61del
NM_001272003.1:c.2197_2199del	NP_001258932.1:p.Cys733del
NM_020822.2:c.2332_2334del	NP_065873.2:p.Cys778del
XM_011518877.1:c.2467_2469del	XP_011517179.1:p.Cys823del
XM_011518878.1:c.2476_2478del	XP_011517180.1:p.Cys826del
XM_011518879.1:c.2467_2469del	XP_011517181.1:p.Cys823del
XM_011518880.1:c.2233_2235del	XP_011517182.1:p.Cys745del
XM_011518881.1:c.1822_1824del	XP_011517183.1:p.Cys608del
XM_011518877.3:c.2467_2469del	XP_011517179.1:p.Cys823del
XM_011518878.3:c.2476_2478del	XP_011517180.1:p.Cys826del
XM_011518879.3:c.2467_2469del	XP_011517181.1:p.Cys823del
XM_011518881.3:c.1822_1824del	XP_011517183.1:p.Cys608del
XM_017014931.1:c.2266_2268del	XP_016870420.1:p.Cys756del
XM_017014932.1:c.2089_2091del	XP_016870421.1:p.Cys697del
XM_017014933.1:c.1822_1824del	XP_016870422.1:p.Cys608del
XM_024447617.1:c.1822_1824del	XP_024303385.1:p.Cys608del
XM_024447618.1:c.1822_1824del	XP_024303386.1:p.Cys608del
NM_020822.3:c.2332_2334del MANE Select	NP_065873.2:p.Cys778del
NM_001272003.2:c.2197_2199del	NP_001258932.1:p.Cys733del