Canonical Allele Identifier: CA5327247

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 699585
• ClinVar RCV Id: RCV001430431 ; RCV003334012
• dbSNP Id: rs370521183
• ExAC: 9:138667192 C / T
• gnomAD v2: 9-138667192-C-T
• gnomAD v3: 9-135775346-C-T
• gnomAD v4: 9-135775346-C-T
• COSMIC: COSM3905555 ; COSM3905556
• MyVariant Identifiers: chr9:g.138667192C>T (hg19) ; chr9:g.135775346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775346C>T , CM000671.2:g.135775346C>T	GRCh38
NC_000009.11:g.138667192C>T , CM000671.1:g.138667192C>T	GRCh37
NC_000009.10:g.137807013C>T	NCBI36
NG_033070.1:g.78162C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2280C>T MANE Select	ENSP00000360822.2:p.Ile760=
ENST00000674572.1:c.2121C>T	ENSP00000501742.1:p.Ile707=
ENST00000675090.1:c.2028C>T	ENSP00000501833.1:p.Ile676=
ENST00000675399.1:c.2028C>T	ENSP00000501932.1:p.Ile676=
ENST00000676421.1:c.2037C>T	ENSP00000502322.1:p.Ile679=
ENST00000263604.5:c.2181C>T	ENSP00000263604.4:p.Ile727=
ENST00000371757.6:c.2280C>T	ENSP00000360822.2:p.Ile760=
ENST00000460750.5:c.*1890C>T	ENSP00000418777.1:n.*1890C>T
ENST00000486577.6:c.2163C>T	ENSP00000417578.3:p.Ile721=
ENST00000487664.5:c.2280C>T	ENSP00000417851.2:p.Ile760=
ENST00000488444.6:c.2223C>T	ENSP00000419007.3:p.Ile741=
ENST00000490355.6:c.2217C>T	ENSP00000418003.3:p.Ile739=
ENST00000490363.3:n.2099C>T
ENST00000491806.6:c.2223C>T	ENSP00000419086.3:p.Ile741=
ENST00000628528.2:c.2145C>T	ENSP00000486374.1:p.Ile715=
ENST00000630792.2:c.2115C>T	ENSP00000486486.1:p.Ile705=
ENST00000631073.2:c.2223C>T	ENSP00000486130.1:p.Ile741=
ENST00000631193.1:c.129C>T	ENSP00000486830.1:p.Ile43=
NM_001272003.1:c.2145C>T	NP_001258932.1:p.Ile715=
NM_020822.2:c.2280C>T	NP_065873.2:p.Ile760=
XM_011518877.1:c.2415C>T	XP_011517179.1:p.Ile805=
XM_011518878.1:c.2424C>T	XP_011517180.1:p.Ile808=
XM_011518879.1:c.2415C>T	XP_011517181.1:p.Ile805=
XM_011518880.1:c.2181C>T	XP_011517182.1:p.Ile727=
XM_011518881.1:c.1770C>T	XP_011517183.1:p.Ile590=
XM_011518877.3:c.2415C>T	XP_011517179.1:p.Ile805=
XM_011518878.3:c.2424C>T	XP_011517180.1:p.Ile808=
XM_011518879.3:c.2415C>T	XP_011517181.1:p.Ile805=
XM_011518881.3:c.1770C>T	XP_011517183.1:p.Ile590=
XM_017014931.1:c.2214C>T	XP_016870420.1:p.Ile738=
XM_017014932.1:c.2037C>T	XP_016870421.1:p.Ile679=
XM_017014933.1:c.1770C>T	XP_016870422.1:p.Ile590=
XM_024447617.1:c.1770C>T	XP_024303385.1:p.Ile590=
XM_024447618.1:c.1770C>T	XP_024303386.1:p.Ile590=
NM_020822.3:c.2280C>T MANE Select	NP_065873.2:p.Ile760=
NM_001272003.2:c.2145C>T	NP_001258932.1:p.Ile715=