Canonical Allele Identifier: CA1883872544

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770016C= , CM000671.2:g.135770016C=	GRCh38
NC_000009.11:g.138661862C= , CM000671.1:g.138661862C=	GRCh37
NC_000009.10:g.137801683C=	NCBI36
NG_033070.1:g.72832C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1580C= MANE Select	ENSP00000360822.2:p.Ser527=
ENST00000674572.1:c.1421C=	ENSP00000501742.1:p.Ser474=
ENST00000675090.1:c.1328C=	ENSP00000501833.1:p.Ser443=
ENST00000675399.1:c.1328C=	ENSP00000501932.1:p.Ser443=
ENST00000676421.1:c.1337C=	ENSP00000502322.1:p.Ser446=
ENST00000263604.5:c.1481C=	ENSP00000263604.4:p.Ser494=
ENST00000371757.6:c.1580C=	ENSP00000360822.2:p.Ser527=
ENST00000460750.5:c.*1190C=	ENSP00000418777.1:n.*1190C=
ENST00000486577.6:c.1463C=	ENSP00000417578.3:p.Ser488=
ENST00000487664.5:c.1580C=	ENSP00000417851.2:p.Ser527=
ENST00000488444.6:c.1523C=	ENSP00000419007.3:p.Ser508=
ENST00000490355.6:c.1523C=	ENSP00000418003.3:p.Ser508=
ENST00000490363.3:n.1399C=
ENST00000491806.6:c.1523C=	ENSP00000419086.3:p.Ser508=
ENST00000628528.2:c.1445C=	ENSP00000486374.1:p.Ser482=
ENST00000630792.2:c.1421C=	ENSP00000486486.1:p.Ser474=
ENST00000631073.2:c.1523C=	ENSP00000486130.1:p.Ser508=
NM_001272003.1:c.1445C=	NP_001258932.1:p.Ser482=
NM_020822.2:c.1580C=	NP_065873.2:p.Ser527=
XM_011518877.1:c.1715C=	XP_011517179.1:p.Ser572=
XM_011518878.1:c.1724C=	XP_011517180.1:p.Ser575=
XM_011518879.1:c.1715C=	XP_011517181.1:p.Ser572=
XM_011518880.1:c.1481C=	XP_011517182.1:p.Ser494=
XM_011518881.1:c.1070C=	XP_011517183.1:p.Ser357=
XM_011518877.3:c.1715C=	XP_011517179.1:p.Ser572=
XM_011518878.3:c.1724C=	XP_011517180.1:p.Ser575=
XM_011518879.3:c.1715C=	XP_011517181.1:p.Ser572=
XM_011518881.3:c.1070C=	XP_011517183.1:p.Ser357=
XM_017014931.1:c.1514C=	XP_016870420.1:p.Ser505=
XM_017014932.1:c.1337C=	XP_016870421.1:p.Ser446=
XM_017014933.1:c.1070C=	XP_016870422.1:p.Ser357=
XM_024447617.1:c.1070C=	XP_024303385.1:p.Ser357=
XM_024447618.1:c.1070C=	XP_024303386.1:p.Ser357=
NM_020822.3:c.1580C= MANE Select	NP_065873.2:p.Ser527=
NM_001272003.2:c.1445C=	NP_001258932.1:p.Ser482=