Canonical Allele Identifier: CA1883843283

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750123G= , CM000671.2:g.135750123G=	GRCh38
NC_000009.11:g.138641969G= , CM000671.1:g.138641969G=	GRCh37
NC_000009.10:g.137781790G=	NCBI36
NG_033070.1:g.52939G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.280G= MANE Select	ENSP00000360822.2:p.Glu94=
ENST00000637018.1:n.85G=
ENST00000638123.1:n.15G=
ENST00000674572.1:c.121G=	ENSP00000501742.1:p.Glu41=
ENST00000675090.1:c.28G=	ENSP00000501833.1:p.Glu10=
ENST00000675399.1:c.28G=	ENSP00000501932.1:p.Glu10=
ENST00000676421.1:c.28G=	ENSP00000502322.1:p.Glu10=
ENST00000263604.5:c.181G=	ENSP00000263604.4:p.Glu61=
ENST00000371757.6:c.280G=	ENSP00000360822.2:p.Glu94=
ENST00000460750.5:c.280G=	ENSP00000418777.1:p.Glu94=
ENST00000473941.5:c.121G=	ENSP00000420764.1:p.Glu41=
ENST00000486577.6:c.163G=	ENSP00000417578.3:p.Glu55=
ENST00000487664.5:c.280G=	ENSP00000417851.2:p.Glu94=
ENST00000488444.6:c.223G=	ENSP00000419007.3:p.Glu75=
ENST00000490355.6:c.223G=	ENSP00000418003.3:p.Glu75=
ENST00000491806.6:c.223G=	ENSP00000419086.3:p.Glu75=
ENST00000628528.2:c.136G=	ENSP00000486374.1:p.Glu46=
ENST00000630792.2:c.121G=	ENSP00000486486.1:p.Glu41=
ENST00000631073.2:c.223G=	ENSP00000486130.1:p.Glu75=
NM_001272003.1:c.136G=	NP_001258932.1:p.Glu46=
NM_020822.2:c.280G=	NP_065873.2:p.Glu94=
XM_011518877.1:c.415G=	XP_011517179.1:p.Glu139=
XM_011518878.1:c.415G=	XP_011517180.1:p.Glu139=
XM_011518879.1:c.415G=	XP_011517181.1:p.Glu139=
XM_011518880.1:c.181G=	XP_011517182.1:p.Glu61=
XM_011518877.3:c.415G=	XP_011517179.1:p.Glu139=
XM_011518878.3:c.415G=	XP_011517180.1:p.Glu139=
XM_011518879.3:c.415G=	XP_011517181.1:p.Glu139=
XM_017014931.1:c.305G=	XP_016870420.1:p.Arg102=
XM_017014932.1:c.28G=	XP_016870421.1:p.Glu10=
XM_017014933.1:c.-140G=	XP_016870422.1:n.-140G=
XM_024447617.1:c.-240G=	XP_024303385.1:n.-240G=
XM_024447618.1:c.-240G=	XP_024303386.1:n.-240G=
NM_020822.3:c.280G= MANE Select	NP_065873.2:p.Glu94=
NM_001272003.2:c.136G=	NP_001258932.1:p.Glu46=