Canonical Allele Identifier: CA5326362

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750152G>T , CM000671.2:g.135750152G>T	GRCh38
NC_000009.11:g.138641998G>T , CM000671.1:g.138641998G>T	GRCh37
NC_000009.10:g.137781819G>T	NCBI36
NG_033070.1:g.52968G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.309G>T MANE Select	ENSP00000360822.2:p.Leu103=
ENST00000637018.1:n.114G>T
ENST00000638123.1:n.44G>T
ENST00000674572.1:c.150G>T	ENSP00000501742.1:p.Leu50=
ENST00000675090.1:c.57G>T	ENSP00000501833.1:p.Leu19=
ENST00000675399.1:c.57G>T	ENSP00000501932.1:p.Leu19=
ENST00000676421.1:c.57G>T	ENSP00000502322.1:p.Leu19=
ENST00000263604.5:c.210G>T	ENSP00000263604.4:p.Leu70=
ENST00000371757.6:c.309G>T	ENSP00000360822.2:p.Leu103=
ENST00000460750.5:c.309G>T	ENSP00000418777.1:p.Leu103=
ENST00000473941.5:c.150G>T	ENSP00000420764.1:p.Leu50=
ENST00000486577.6:c.192G>T	ENSP00000417578.3:p.Leu64=
ENST00000487664.5:c.309G>T	ENSP00000417851.2:p.Leu103=
ENST00000488444.6:c.252G>T	ENSP00000419007.3:p.Leu84=
ENST00000490355.6:c.252G>T	ENSP00000418003.3:p.Leu84=
ENST00000491806.6:c.252G>T	ENSP00000419086.3:p.Leu84=
ENST00000628528.2:c.165G>T	ENSP00000486374.1:p.Leu55=
ENST00000630792.2:c.150G>T	ENSP00000486486.1:p.Leu50=
ENST00000631073.2:c.252G>T	ENSP00000486130.1:p.Leu84=
NM_001272003.1:c.165G>T	NP_001258932.1:p.Leu55=
NM_020822.2:c.309G>T	NP_065873.2:p.Leu103=
XM_011518877.1:c.444G>T	XP_011517179.1:p.Leu148=
XM_011518878.1:c.444G>T	XP_011517180.1:p.Leu148=
XM_011518879.1:c.444G>T	XP_011517181.1:p.Leu148=
XM_011518880.1:c.210G>T	XP_011517182.1:p.Leu70=
XM_011518877.3:c.444G>T	XP_011517179.1:p.Leu148=
XM_011518878.3:c.444G>T	XP_011517180.1:p.Leu148=
XM_011518879.3:c.444G>T	XP_011517181.1:p.Leu148=
XM_017014931.1:c.334G>T	XP_016870420.1:p.Val112Phe
XM_017014932.1:c.57G>T	XP_016870421.1:p.Leu19=
XM_017014933.1:c.-111G>T	XP_016870422.1:n.-111G>T
XM_024447617.1:c.-211G>T	XP_024303385.1:n.-211G>T
XM_024447618.1:c.-211G>T	XP_024303386.1:n.-211G>T
NM_020822.3:c.309G>T MANE Select	NP_065873.2:p.Leu103=
NM_001272003.2:c.165G>T	NP_001258932.1:p.Leu55=