Canonical Allele Identifier: CA467698816

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 794670
• ClinVar RCV Id: RCV001435973
• dbSNP Id: rs1588376018
• gnomAD v4: 9-135775394-C-T
• MyVariant Identifiers: chr9:g.138667240C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775394C>T , CM000671.2:g.135775394C>T	GRCh38
NC_000009.11:g.138667240C>T , CM000671.1:g.138667240C>T	GRCh37
NC_000009.10:g.137807061C>T	NCBI36
NG_033070.1:g.78210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2328C>T MANE Select	ENSP00000360822.2:p.Phe776=
ENST00000674572.1:c.2169C>T	ENSP00000501742.1:p.Phe723=
ENST00000675090.1:c.2076C>T	ENSP00000501833.1:p.Phe692=
ENST00000675399.1:c.2076C>T	ENSP00000501932.1:p.Phe692=
ENST00000676421.1:c.2085C>T	ENSP00000502322.1:p.Phe695=
ENST00000263604.5:c.2229C>T	ENSP00000263604.4:p.Phe743=
ENST00000371757.6:c.2328C>T	ENSP00000360822.2:p.Phe776=
ENST00000460750.5:c.*1938C>T	ENSP00000418777.1:n.*1938C>T
ENST00000486577.6:c.2211C>T	ENSP00000417578.3:p.Phe737=
ENST00000487664.5:c.2328C>T	ENSP00000417851.2:p.Phe776=
ENST00000488444.6:c.2271C>T	ENSP00000419007.3:p.Phe757=
ENST00000490355.6:c.2265C>T	ENSP00000418003.3:p.Phe755=
ENST00000490363.3:n.2147C>T
ENST00000491806.6:c.2271C>T	ENSP00000419086.3:p.Phe757=
ENST00000628528.2:c.2193C>T	ENSP00000486374.1:p.Phe731=
ENST00000630792.2:c.2163C>T	ENSP00000486486.1:p.Phe721=
ENST00000631073.2:c.2271C>T	ENSP00000486130.1:p.Phe757=
ENST00000631193.1:c.177C>T	ENSP00000486830.1:p.Phe59=
NM_001272003.1:c.2193C>T	NP_001258932.1:p.Phe731=
NM_020822.2:c.2328C>T	NP_065873.2:p.Phe776=
XM_011518877.1:c.2463C>T	XP_011517179.1:p.Phe821=
XM_011518878.1:c.2472C>T	XP_011517180.1:p.Phe824=
XM_011518879.1:c.2463C>T	XP_011517181.1:p.Phe821=
XM_011518880.1:c.2229C>T	XP_011517182.1:p.Phe743=
XM_011518881.1:c.1818C>T	XP_011517183.1:p.Phe606=
XM_011518877.3:c.2463C>T	XP_011517179.1:p.Phe821=
XM_011518878.3:c.2472C>T	XP_011517180.1:p.Phe824=
XM_011518879.3:c.2463C>T	XP_011517181.1:p.Phe821=
XM_011518881.3:c.1818C>T	XP_011517183.1:p.Phe606=
XM_017014931.1:c.2262C>T	XP_016870420.1:p.Phe754=
XM_017014932.1:c.2085C>T	XP_016870421.1:p.Phe695=
XM_017014933.1:c.1818C>T	XP_016870422.1:p.Phe606=
XM_024447617.1:c.1818C>T	XP_024303385.1:p.Phe606=
XM_024447618.1:c.1818C>T	XP_024303386.1:p.Phe606=
NM_020822.3:c.2328C>T MANE Select	NP_065873.2:p.Phe776=
NM_001272003.2:c.2193C>T	NP_001258932.1:p.Phe731=