Canonical Allele Identifier: CA1883843217

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750113C= , CM000671.2:g.135750113C=	GRCh38
NC_000009.11:g.138641959C= , CM000671.1:g.138641959C=	GRCh37
NC_000009.10:g.137781780C=	NCBI36
NG_033070.1:g.52929C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.270C= MANE Select	ENSP00000360822.2:p.Phe90=
ENST00000637018.1:n.75C=
ENST00000638123.1:n.5C=
ENST00000674572.1:c.111C=	ENSP00000501742.1:p.Phe37=
ENST00000675090.1:c.18C=	ENSP00000501833.1:p.Phe6=
ENST00000675399.1:c.18C=	ENSP00000501932.1:p.Phe6=
ENST00000676421.1:c.18C=	ENSP00000502322.1:p.Phe6=
ENST00000263604.5:c.171C=	ENSP00000263604.4:p.Phe57=
ENST00000371757.6:c.270C=	ENSP00000360822.2:p.Phe90=
ENST00000460750.5:c.270C=	ENSP00000418777.1:p.Phe90=
ENST00000473941.5:c.111C=	ENSP00000420764.1:p.Phe37=
ENST00000486577.6:c.153C=	ENSP00000417578.3:p.Phe51=
ENST00000487664.5:c.270C=	ENSP00000417851.2:p.Phe90=
ENST00000488444.6:c.213C=	ENSP00000419007.3:p.Phe71=
ENST00000490355.6:c.213C=	ENSP00000418003.3:p.Phe71=
ENST00000491806.6:c.213C=	ENSP00000419086.3:p.Phe71=
ENST00000628528.2:c.126C=	ENSP00000486374.1:p.Phe42=
ENST00000630792.2:c.111C=	ENSP00000486486.1:p.Phe37=
ENST00000631073.2:c.213C=	ENSP00000486130.1:p.Phe71=
NM_001272003.1:c.126C=	NP_001258932.1:p.Phe42=
NM_020822.2:c.270C=	NP_065873.2:p.Phe90=
XM_011518877.1:c.405C=	XP_011517179.1:p.Phe135=
XM_011518878.1:c.405C=	XP_011517180.1:p.Phe135=
XM_011518879.1:c.405C=	XP_011517181.1:p.Phe135=
XM_011518880.1:c.171C=	XP_011517182.1:p.Phe57=
XM_011518877.3:c.405C=	XP_011517179.1:p.Phe135=
XM_011518878.3:c.405C=	XP_011517180.1:p.Phe135=
XM_011518879.3:c.405C=	XP_011517181.1:p.Phe135=
XM_017014931.1:c.295C=	XP_016870420.1:p.Leu99=
XM_017014932.1:c.18C=	XP_016870421.1:p.Phe6=
XM_017014933.1:c.-150C=	XP_016870422.1:n.-150C=
XM_024447617.1:c.-250C=	XP_024303385.1:n.-250C=
XM_024447618.1:c.-250C=	XP_024303386.1:n.-250C=
NM_020822.3:c.270C= MANE Select	NP_065873.2:p.Phe90=
NM_001272003.2:c.126C=	NP_001258932.1:p.Phe42=