Canonical Allele Identifier: CA375498074

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135758427G>A , CM000671.2:g.135758427G>A	GRCh38
NC_000009.11:g.138650273G>A , CM000671.1:g.138650273G>A	GRCh37
NC_000009.10:g.137790094G>A	NCBI36
NG_033070.1:g.61243G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020822.3:c.773G>A MANE Select	NP_065873.2:p.Arg258His
ENST00000371757.7:c.773G>A MANE Select	ENSP00000360822.2:p.Arg258His
NM_001272003.1:c.629G>A	NP_001258932.1:p.Arg210His
NM_001272003.2:c.629G>A	NP_001258932.1:p.Arg210His
NM_020822.2:c.773G>A	NP_065873.2:p.Arg258His
ENST00000263604.5:c.674G>A	ENSP00000263604.4:p.Arg225His
ENST00000371757.6:c.773G>A	ENSP00000360822.2:p.Arg258His
ENST00000460750.5:c.*383G>A	ENSP00000418777.1:n.*383G>A
ENST00000473941.5:c.614G>A	ENSP00000420764.1:p.Arg205His
ENST00000486577.6:c.656G>A	ENSP00000417578.3:p.Arg219His
ENST00000487664.5:c.773G>A	ENSP00000417851.2:p.Arg258His
ENST00000488444.6:c.716G>A	ENSP00000419007.3:p.Arg239His
ENST00000490355.6:c.716G>A	ENSP00000418003.3:p.Arg239His
ENST00000490363.3:n.592G>A
ENST00000491806.6:c.716G>A	ENSP00000419086.3:p.Arg239His
ENST00000628528.2:c.629G>A	ENSP00000486374.1:p.Arg210His
ENST00000630792.2:c.614G>A	ENSP00000486486.1:p.Arg205His
ENST00000631073.2:c.716G>A	ENSP00000486130.1:p.Arg239His
ENST00000674572.1:c.614G>A	ENSP00000501742.1:p.Arg205His
ENST00000675090.1:c.521G>A	ENSP00000501833.1:p.Arg174His
ENST00000675399.1:c.521G>A	ENSP00000501932.1:p.Arg174His
ENST00000676421.1:c.521G>A	ENSP00000502322.1:p.Arg174His
XM_011518877.1:c.908G>A	XP_011517179.1:p.Arg303His
XM_011518877.3:c.908G>A	XP_011517179.1:p.Arg303His
XM_011518878.1:c.908G>A	XP_011517180.1:p.Arg303His
XM_011518878.3:c.908G>A	XP_011517180.1:p.Arg303His
XM_011518879.1:c.908G>A	XP_011517181.1:p.Arg303His
XM_011518879.3:c.908G>A	XP_011517181.1:p.Arg303His
XM_011518880.1:c.674G>A	XP_011517182.1:p.Arg225His
XM_011518881.1:c.254G>A	XP_011517183.1:p.Arg85His
XM_011518881.3:c.254G>A	XP_011517183.1:p.Arg85His
XM_017014931.1:c.698G>A	XP_016870420.1:p.Arg233His
XM_017014932.1:c.521G>A	XP_016870421.1:p.Arg174His
XM_017014933.1:c.254G>A	XP_016870422.1:p.Arg85His
XM_024447617.1:c.254G>A	XP_024303385.1:p.Arg85His
XM_024447618.1:c.254G>A	XP_024303386.1:p.Arg85His