Canonical Allele Identifier: CA1883866692

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765716C= , CM000671.2:g.135765716C=	GRCh38
NC_000009.11:g.138657562C= , CM000671.1:g.138657562C=	GRCh37
NC_000009.10:g.137797383C=	NCBI36
NG_033070.1:g.68532C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1293C= MANE Select	ENSP00000360822.2:p.Tyr431=
ENST00000636995.1:n.20C=
ENST00000637798.1:n.32C=
ENST00000674572.1:c.1134C=	ENSP00000501742.1:p.Tyr378=
ENST00000675090.1:c.1041C=	ENSP00000501833.1:p.Tyr347=
ENST00000675399.1:c.1041C=	ENSP00000501932.1:p.Tyr347=
ENST00000676421.1:c.1050C=	ENSP00000502322.1:p.Tyr350=
ENST00000263604.5:c.1194C=	ENSP00000263604.4:p.Tyr398=
ENST00000371757.6:c.1293C=	ENSP00000360822.2:p.Tyr431=
ENST00000460750.5:c.*903C=	ENSP00000418777.1:n.*903C=
ENST00000486577.6:c.1176C=	ENSP00000417578.3:p.Tyr392=
ENST00000487664.5:c.1293C=	ENSP00000417851.2:p.Tyr431=
ENST00000488444.6:c.1236C=	ENSP00000419007.3:p.Tyr412=
ENST00000490355.6:c.1236C=	ENSP00000418003.3:p.Tyr412=
ENST00000490363.3:n.1112C=
ENST00000491806.6:c.1236C=	ENSP00000419086.3:p.Tyr412=
ENST00000628528.2:c.1158C=	ENSP00000486374.1:p.Tyr386=
ENST00000630792.2:c.1134C=	ENSP00000486486.1:p.Tyr378=
ENST00000631073.2:c.1236C=	ENSP00000486130.1:p.Tyr412=
NM_001272003.1:c.1158C=	NP_001258932.1:p.Tyr386=
NM_020822.2:c.1293C=	NP_065873.2:p.Tyr431=
XM_011518877.1:c.1428C=	XP_011517179.1:p.Tyr476=
XM_011518878.1:c.1437C=	XP_011517180.1:p.Tyr479=
XM_011518879.1:c.1428C=	XP_011517181.1:p.Tyr476=
XM_011518880.1:c.1194C=	XP_011517182.1:p.Tyr398=
XM_011518881.1:c.783C=	XP_011517183.1:p.Tyr261=
XM_011518877.3:c.1428C=	XP_011517179.1:p.Tyr476=
XM_011518878.3:c.1437C=	XP_011517180.1:p.Tyr479=
XM_011518879.3:c.1428C=	XP_011517181.1:p.Tyr476=
XM_011518881.3:c.783C=	XP_011517183.1:p.Tyr261=
XM_017014931.1:c.1227C=	XP_016870420.1:p.Tyr409=
XM_017014932.1:c.1050C=	XP_016870421.1:p.Tyr350=
XM_017014933.1:c.783C=	XP_016870422.1:p.Tyr261=
XM_024447617.1:c.783C=	XP_024303385.1:p.Tyr261=
XM_024447618.1:c.783C=	XP_024303386.1:p.Tyr261=
NM_020822.3:c.1293C= MANE Select	NP_065873.2:p.Tyr431=
NM_001272003.2:c.1158C=	NP_001258932.1:p.Tyr386=