Canonical Allele Identifier: CA1883872484

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769990G= , CM000671.2:g.135769990G=	GRCh38
NC_000009.11:g.138661836G= , CM000671.1:g.138661836G=	GRCh37
NC_000009.10:g.137801657G=	NCBI36
NG_033070.1:g.72806G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1554G= MANE Select	ENSP00000360822.2:p.Ala518=
ENST00000674572.1:c.1395G=	ENSP00000501742.1:p.Ala465=
ENST00000675090.1:c.1302G=	ENSP00000501833.1:p.Ala434=
ENST00000675399.1:c.1302G=	ENSP00000501932.1:p.Ala434=
ENST00000676421.1:c.1311G=	ENSP00000502322.1:p.Ala437=
ENST00000263604.5:c.1455G=	ENSP00000263604.4:p.Ala485=
ENST00000371757.6:c.1554G=	ENSP00000360822.2:p.Ala518=
ENST00000460750.5:c.*1164G=	ENSP00000418777.1:n.*1164G=
ENST00000486577.6:c.1437G=	ENSP00000417578.3:p.Ala479=
ENST00000487664.5:c.1554G=	ENSP00000417851.2:p.Ala518=
ENST00000488444.6:c.1497G=	ENSP00000419007.3:p.Ala499=
ENST00000490355.6:c.1497G=	ENSP00000418003.3:p.Ala499=
ENST00000490363.3:n.1373G=
ENST00000491806.6:c.1497G=	ENSP00000419086.3:p.Ala499=
ENST00000628528.2:c.1419G=	ENSP00000486374.1:p.Ala473=
ENST00000630792.2:c.1395G=	ENSP00000486486.1:p.Ala465=
ENST00000631073.2:c.1497G=	ENSP00000486130.1:p.Ala499=
NM_001272003.1:c.1419G=	NP_001258932.1:p.Ala473=
NM_020822.2:c.1554G=	NP_065873.2:p.Ala518=
XM_011518877.1:c.1689G=	XP_011517179.1:p.Ala563=
XM_011518878.1:c.1698G=	XP_011517180.1:p.Ala566=
XM_011518879.1:c.1689G=	XP_011517181.1:p.Ala563=
XM_011518880.1:c.1455G=	XP_011517182.1:p.Ala485=
XM_011518881.1:c.1044G=	XP_011517183.1:p.Ala348=
XM_011518877.3:c.1689G=	XP_011517179.1:p.Ala563=
XM_011518878.3:c.1698G=	XP_011517180.1:p.Ala566=
XM_011518879.3:c.1689G=	XP_011517181.1:p.Ala563=
XM_011518881.3:c.1044G=	XP_011517183.1:p.Ala348=
XM_017014931.1:c.1488G=	XP_016870420.1:p.Ala496=
XM_017014932.1:c.1311G=	XP_016870421.1:p.Ala437=
XM_017014933.1:c.1044G=	XP_016870422.1:p.Ala348=
XM_024447617.1:c.1044G=	XP_024303385.1:p.Ala348=
XM_024447618.1:c.1044G=	XP_024303386.1:p.Ala348=
NM_020822.3:c.1554G= MANE Select	NP_065873.2:p.Ala518=
NM_001272003.2:c.1419G=	NP_001258932.1:p.Ala473=