Canonical Allele Identifier: CA467698590

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2940212
• ClinVar RCV Id: RCV003797570
• gnomAD v4: 9-135770442-C-T
• MyVariant Identifiers: chr9:g.138662288C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770442C>T , CM000671.2:g.135770442C>T	GRCh38
NC_000009.11:g.138662288C>T , CM000671.1:g.138662288C>T	GRCh37
NC_000009.10:g.137802109C>T	NCBI36
NG_033070.1:g.73258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1764C>T MANE Select	ENSP00000360822.2:p.His588=
ENST00000674572.1:c.1605C>T	ENSP00000501742.1:p.His535=
ENST00000675090.1:c.1512C>T	ENSP00000501833.1:p.His504=
ENST00000675399.1:c.1512C>T	ENSP00000501932.1:p.His504=
ENST00000676421.1:c.1521C>T	ENSP00000502322.1:p.His507=
ENST00000263604.5:c.1665C>T	ENSP00000263604.4:p.His555=
ENST00000371757.6:c.1764C>T	ENSP00000360822.2:p.His588=
ENST00000460750.5:c.*1374C>T	ENSP00000418777.1:n.*1374C>T
ENST00000486577.6:c.1647C>T	ENSP00000417578.3:p.His549=
ENST00000487664.5:c.1764C>T	ENSP00000417851.2:p.His588=
ENST00000488444.6:c.1707C>T	ENSP00000419007.3:p.His569=
ENST00000490355.6:c.1707C>T	ENSP00000418003.3:p.His569=
ENST00000490363.3:n.1583C>T
ENST00000491806.6:c.1707C>T	ENSP00000419086.3:p.His569=
ENST00000628528.2:c.1629C>T	ENSP00000486374.1:p.His543=
ENST00000630792.2:c.1605C>T	ENSP00000486486.1:p.His535=
ENST00000631073.2:c.1707C>T	ENSP00000486130.1:p.His569=
NM_001272003.1:c.1629C>T	NP_001258932.1:p.His543=
NM_020822.2:c.1764C>T	NP_065873.2:p.His588=
XM_011518877.1:c.1899C>T	XP_011517179.1:p.His633=
XM_011518878.1:c.1908C>T	XP_011517180.1:p.His636=
XM_011518879.1:c.1899C>T	XP_011517181.1:p.His633=
XM_011518880.1:c.1665C>T	XP_011517182.1:p.His555=
XM_011518881.1:c.1254C>T	XP_011517183.1:p.His418=
XM_011518877.3:c.1899C>T	XP_011517179.1:p.His633=
XM_011518878.3:c.1908C>T	XP_011517180.1:p.His636=
XM_011518879.3:c.1899C>T	XP_011517181.1:p.His633=
XM_011518881.3:c.1254C>T	XP_011517183.1:p.His418=
XM_017014931.1:c.1698C>T	XP_016870420.1:p.His566=
XM_017014932.1:c.1521C>T	XP_016870421.1:p.His507=
XM_017014933.1:c.1254C>T	XP_016870422.1:p.His418=
XM_024447617.1:c.1254C>T	XP_024303385.1:p.His418=
XM_024447618.1:c.1254C>T	XP_024303386.1:p.His418=
NM_020822.3:c.1764C>T MANE Select	NP_065873.2:p.His588=
NM_001272003.2:c.1629C>T	NP_001258932.1:p.His543=