Canonical Allele Identifier: CA1883884940

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775388C= , CM000671.2:g.135775388C=	GRCh38
NC_000009.11:g.138667234C= , CM000671.1:g.138667234C=	GRCh37
NC_000009.10:g.137807055C=	NCBI36
NG_033070.1:g.78204C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2322C= MANE Select	ENSP00000360822.2:p.Ala774=
ENST00000674572.1:c.2163C=	ENSP00000501742.1:p.Ala721=
ENST00000675090.1:c.2070C=	ENSP00000501833.1:p.Ala690=
ENST00000675399.1:c.2070C=	ENSP00000501932.1:p.Ala690=
ENST00000676421.1:c.2079C=	ENSP00000502322.1:p.Ala693=
ENST00000263604.5:c.2223C=	ENSP00000263604.4:p.Ala741=
ENST00000371757.6:c.2322C=	ENSP00000360822.2:p.Ala774=
ENST00000460750.5:c.*1932C=	ENSP00000418777.1:n.*1932C=
ENST00000486577.6:c.2205C=	ENSP00000417578.3:p.Ala735=
ENST00000487664.5:c.2322C=	ENSP00000417851.2:p.Ala774=
ENST00000488444.6:c.2265C=	ENSP00000419007.3:p.Ala755=
ENST00000490355.6:c.2259C=	ENSP00000418003.3:p.Ala753=
ENST00000490363.3:n.2141C=
ENST00000491806.6:c.2265C=	ENSP00000419086.3:p.Ala755=
ENST00000628528.2:c.2187C=	ENSP00000486374.1:p.Ala729=
ENST00000630792.2:c.2157C=	ENSP00000486486.1:p.Ala719=
ENST00000631073.2:c.2265C=	ENSP00000486130.1:p.Ala755=
ENST00000631193.1:c.171C=	ENSP00000486830.1:p.Ala57=
NM_001272003.1:c.2187C=	NP_001258932.1:p.Ala729=
NM_020822.2:c.2322C=	NP_065873.2:p.Ala774=
XM_011518877.1:c.2457C=	XP_011517179.1:p.Ala819=
XM_011518878.1:c.2466C=	XP_011517180.1:p.Ala822=
XM_011518879.1:c.2457C=	XP_011517181.1:p.Ala819=
XM_011518880.1:c.2223C=	XP_011517182.1:p.Ala741=
XM_011518881.1:c.1812C=	XP_011517183.1:p.Ala604=
XM_011518877.3:c.2457C=	XP_011517179.1:p.Ala819=
XM_011518878.3:c.2466C=	XP_011517180.1:p.Ala822=
XM_011518879.3:c.2457C=	XP_011517181.1:p.Ala819=
XM_011518881.3:c.1812C=	XP_011517183.1:p.Ala604=
XM_017014931.1:c.2256C=	XP_016870420.1:p.Ala752=
XM_017014932.1:c.2079C=	XP_016870421.1:p.Ala693=
XM_017014933.1:c.1812C=	XP_016870422.1:p.Ala604=
XM_024447617.1:c.1812C=	XP_024303385.1:p.Ala604=
XM_024447618.1:c.1812C=	XP_024303386.1:p.Ala604=
NM_020822.3:c.2322C= MANE Select	NP_065873.2:p.Ala774=
NM_001272003.2:c.2187C=	NP_001258932.1:p.Ala729=