Canonical Allele Identifier: CA375494786

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 999362
• ClinVar RCV Id: RCV001295351 ; RCV002512150
• dbSNP Id: rs1831067002
• gnomAD v4: 9-135750141-C-T
• COSMIC: COSM6201842 ; COSM6201843
• MyVariant Identifiers: chr9:g.138641987C>T (hg19) ; chr9:g.135750141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750141C>T , CM000671.2:g.135750141C>T	GRCh38
NC_000009.11:g.138641987C>T , CM000671.1:g.138641987C>T	GRCh37
NC_000009.10:g.137781808C>T	NCBI36
NG_033070.1:g.52957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.298C>T MANE Select	ENSP00000360822.2:p.Arg100Trp
ENST00000637018.1:n.103C>T
ENST00000638123.1:n.33C>T
ENST00000674572.1:c.139C>T	ENSP00000501742.1:p.Arg47Trp
ENST00000675090.1:c.46C>T	ENSP00000501833.1:p.Arg16Trp
ENST00000675399.1:c.46C>T	ENSP00000501932.1:p.Arg16Trp
ENST00000676421.1:c.46C>T	ENSP00000502322.1:p.Arg16Trp
ENST00000263604.5:c.199C>T	ENSP00000263604.4:p.Arg67Trp
ENST00000371757.6:c.298C>T	ENSP00000360822.2:p.Arg100Trp
ENST00000460750.5:c.298C>T	ENSP00000418777.1:p.Arg100Trp
ENST00000473941.5:c.139C>T	ENSP00000420764.1:p.Arg47Trp
ENST00000486577.6:c.181C>T	ENSP00000417578.3:p.Arg61Trp
ENST00000487664.5:c.298C>T	ENSP00000417851.2:p.Arg100Trp
ENST00000488444.6:c.241C>T	ENSP00000419007.3:p.Arg81Trp
ENST00000490355.6:c.241C>T	ENSP00000418003.3:p.Arg81Trp
ENST00000491806.6:c.241C>T	ENSP00000419086.3:p.Arg81Trp
ENST00000628528.2:c.154C>T	ENSP00000486374.1:p.Arg52Trp
ENST00000630792.2:c.139C>T	ENSP00000486486.1:p.Arg47Trp
ENST00000631073.2:c.241C>T	ENSP00000486130.1:p.Arg81Trp
NM_001272003.1:c.154C>T	NP_001258932.1:p.Arg52Trp
NM_020822.2:c.298C>T	NP_065873.2:p.Arg100Trp
XM_011518877.1:c.433C>T	XP_011517179.1:p.Arg145Trp
XM_011518878.1:c.433C>T	XP_011517180.1:p.Arg145Trp
XM_011518879.1:c.433C>T	XP_011517181.1:p.Arg145Trp
XM_011518880.1:c.199C>T	XP_011517182.1:p.Arg67Trp
XM_011518877.3:c.433C>T	XP_011517179.1:p.Arg145Trp
XM_011518878.3:c.433C>T	XP_011517180.1:p.Arg145Trp
XM_011518879.3:c.433C>T	XP_011517181.1:p.Arg145Trp
XM_017014931.1:c.323C>T	XP_016870420.1:p.Ala108Val
XM_017014932.1:c.46C>T	XP_016870421.1:p.Arg16Trp
XM_017014933.1:c.-122C>T	XP_016870422.1:n.-122C>T
XM_024447617.1:c.-222C>T	XP_024303385.1:n.-222C>T
XM_024447618.1:c.-222C>T	XP_024303386.1:n.-222C>T
NM_020822.3:c.298C>T MANE Select	NP_065873.2:p.Arg100Trp
NM_001272003.2:c.154C>T	NP_001258932.1:p.Arg52Trp