Canonical Allele Identifier: CA467698827

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2197175
• ClinVar RCV Id: RCV002624751
• dbSNP Id: rs1833091676
• gnomAD v4: 9-135775404-C-A
• COSMIC: COSM295144
• MyVariant Identifiers: chr9:g.138667250C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775404C>A , CM000671.2:g.135775404C>A	GRCh38
NC_000009.11:g.138667250C>A , CM000671.1:g.138667250C>A	GRCh37
NC_000009.10:g.137807071C>A	NCBI36
NG_033070.1:g.78220C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2338C>A MANE Select	ENSP00000360822.2:p.Arg780=
ENST00000674572.1:c.2179C>A	ENSP00000501742.1:p.Arg727=
ENST00000675090.1:c.2086C>A	ENSP00000501833.1:p.Arg696=
ENST00000675399.1:c.2086C>A	ENSP00000501932.1:p.Arg696=
ENST00000676421.1:c.2095C>A	ENSP00000502322.1:p.Arg699=
ENST00000263604.5:c.2239C>A	ENSP00000263604.4:p.Arg747=
ENST00000371757.6:c.2338C>A	ENSP00000360822.2:p.Arg780=
ENST00000460750.5:c.*1948C>A	ENSP00000418777.1:n.*1948C>A
ENST00000486577.6:c.2221C>A	ENSP00000417578.3:p.Arg741=
ENST00000487664.5:c.2338C>A	ENSP00000417851.2:p.Arg780=
ENST00000488444.6:c.2281C>A	ENSP00000419007.3:p.Arg761=
ENST00000490355.6:c.2275C>A	ENSP00000418003.3:p.Arg759=
ENST00000490363.3:n.2157C>A
ENST00000491806.6:c.2281C>A	ENSP00000419086.3:p.Arg761=
ENST00000628528.2:c.2203C>A	ENSP00000486374.1:p.Arg735=
ENST00000630792.2:c.2173C>A	ENSP00000486486.1:p.Arg725=
ENST00000631073.2:c.2281C>A	ENSP00000486130.1:p.Arg761=
ENST00000631193.1:c.187C>A	ENSP00000486830.1:p.Arg63=
NM_001272003.1:c.2203C>A	NP_001258932.1:p.Arg735=
NM_020822.2:c.2338C>A	NP_065873.2:p.Arg780=
XM_011518877.1:c.2473C>A	XP_011517179.1:p.Arg825=
XM_011518878.1:c.2482C>A	XP_011517180.1:p.Arg828=
XM_011518879.1:c.2473C>A	XP_011517181.1:p.Arg825=
XM_011518880.1:c.2239C>A	XP_011517182.1:p.Arg747=
XM_011518881.1:c.1828C>A	XP_011517183.1:p.Arg610=
XM_011518877.3:c.2473C>A	XP_011517179.1:p.Arg825=
XM_011518878.3:c.2482C>A	XP_011517180.1:p.Arg828=
XM_011518879.3:c.2473C>A	XP_011517181.1:p.Arg825=
XM_011518881.3:c.1828C>A	XP_011517183.1:p.Arg610=
XM_017014931.1:c.2272C>A	XP_016870420.1:p.Arg758=
XM_017014932.1:c.2095C>A	XP_016870421.1:p.Arg699=
XM_017014933.1:c.1828C>A	XP_016870422.1:p.Arg610=
XM_024447617.1:c.1828C>A	XP_024303385.1:p.Arg610=
XM_024447618.1:c.1828C>A	XP_024303386.1:p.Arg610=
NM_020822.3:c.2338C>A MANE Select	NP_065873.2:p.Arg780=
NM_001272003.2:c.2203C>A	NP_001258932.1:p.Arg735=