Canonical Allele Identifier: CA1883866677

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765672C= , CM000671.2:g.135765672C=	GRCh38
NC_000009.11:g.138657518C= , CM000671.1:g.138657518C=	GRCh37
NC_000009.10:g.137797339C=	NCBI36
NG_033070.1:g.68488C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1249C= MANE Select	ENSP00000360822.2:p.Arg417=
ENST00000674572.1:c.1090C=	ENSP00000501742.1:p.Arg364=
ENST00000675090.1:c.997C=	ENSP00000501833.1:p.Arg333=
ENST00000675399.1:c.997C=	ENSP00000501932.1:p.Arg333=
ENST00000676421.1:c.1006C=	ENSP00000502322.1:p.Arg336=
ENST00000263604.5:c.1150C=	ENSP00000263604.4:p.Arg384=
ENST00000371757.6:c.1249C=	ENSP00000360822.2:p.Arg417=
ENST00000460750.5:c.*859C=	ENSP00000418777.1:n.*859C=
ENST00000486577.6:c.1132C=	ENSP00000417578.3:p.Arg378=
ENST00000487664.5:c.1249C=	ENSP00000417851.2:p.Arg417=
ENST00000488444.6:c.1192C=	ENSP00000419007.3:p.Arg398=
ENST00000490355.6:c.1192C=	ENSP00000418003.3:p.Arg398=
ENST00000490363.3:n.1068C=
ENST00000491806.6:c.1192C=	ENSP00000419086.3:p.Arg398=
ENST00000628528.2:c.1114C=	ENSP00000486374.1:p.Arg372=
ENST00000630792.2:c.1090C=	ENSP00000486486.1:p.Arg364=
ENST00000631073.2:c.1192C=	ENSP00000486130.1:p.Arg398=
NM_001272003.1:c.1114C=	NP_001258932.1:p.Arg372=
NM_020822.2:c.1249C=	NP_065873.2:p.Arg417=
XM_011518877.1:c.1384C=	XP_011517179.1:p.Arg462=
XM_011518878.1:c.1393C=	XP_011517180.1:p.Arg465=
XM_011518879.1:c.1384C=	XP_011517181.1:p.Arg462=
XM_011518880.1:c.1150C=	XP_011517182.1:p.Arg384=
XM_011518881.1:c.739C=	XP_011517183.1:p.Arg247=
XM_011518877.3:c.1384C=	XP_011517179.1:p.Arg462=
XM_011518878.3:c.1393C=	XP_011517180.1:p.Arg465=
XM_011518879.3:c.1384C=	XP_011517181.1:p.Arg462=
XM_011518881.3:c.739C=	XP_011517183.1:p.Arg247=
XM_017014931.1:c.1183C=	XP_016870420.1:p.Arg395=
XM_017014932.1:c.1006C=	XP_016870421.1:p.Arg336=
XM_017014933.1:c.739C=	XP_016870422.1:p.Arg247=
XM_024447617.1:c.739C=	XP_024303385.1:p.Arg247=
XM_024447618.1:c.739C=	XP_024303386.1:p.Arg247=
NM_020822.3:c.1249C= MANE Select	NP_065873.2:p.Arg417=
NM_001272003.2:c.1114C=	NP_001258932.1:p.Arg372=