Canonical Allele Identifier: CA375501425

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138657531A>T (hg19) ; chr9:g.135765685A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765685A>T , CM000671.2:g.135765685A>T	GRCh38
NC_000009.11:g.138657531A>T , CM000671.1:g.138657531A>T	GRCh37
NC_000009.10:g.137797352A>T	NCBI36
NG_033070.1:g.68501A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1262A>T MANE Select	ENSP00000360822.2:p.Gln421Leu
ENST00000637798.1:n.1A>T
ENST00000674572.1:c.1103A>T	ENSP00000501742.1:p.Gln368Leu
ENST00000675090.1:c.1010A>T	ENSP00000501833.1:p.Gln337Leu
ENST00000675399.1:c.1010A>T	ENSP00000501932.1:p.Gln337Leu
ENST00000676421.1:c.1019A>T	ENSP00000502322.1:p.Gln340Leu
ENST00000263604.5:c.1163A>T	ENSP00000263604.4:p.Gln388Leu
ENST00000371757.6:c.1262A>T	ENSP00000360822.2:p.Gln421Leu
ENST00000460750.5:c.*872A>T	ENSP00000418777.1:n.*872A>T
ENST00000486577.6:c.1145A>T	ENSP00000417578.3:p.Gln382Leu
ENST00000487664.5:c.1262A>T	ENSP00000417851.2:p.Gln421Leu
ENST00000488444.6:c.1205A>T	ENSP00000419007.3:p.Gln402Leu
ENST00000490355.6:c.1205A>T	ENSP00000418003.3:p.Gln402Leu
ENST00000490363.3:n.1081A>T
ENST00000491806.6:c.1205A>T	ENSP00000419086.3:p.Gln402Leu
ENST00000628528.2:c.1127A>T	ENSP00000486374.1:p.Gln376Leu
ENST00000630792.2:c.1103A>T	ENSP00000486486.1:p.Gln368Leu
ENST00000631073.2:c.1205A>T	ENSP00000486130.1:p.Gln402Leu
NM_001272003.1:c.1127A>T	NP_001258932.1:p.Gln376Leu
NM_020822.2:c.1262A>T	NP_065873.2:p.Gln421Leu
XM_011518877.1:c.1397A>T	XP_011517179.1:p.Gln466Leu
XM_011518878.1:c.1406A>T	XP_011517180.1:p.Gln469Leu
XM_011518879.1:c.1397A>T	XP_011517181.1:p.Gln466Leu
XM_011518880.1:c.1163A>T	XP_011517182.1:p.Gln388Leu
XM_011518881.1:c.752A>T	XP_011517183.1:p.Gln251Leu
XM_011518877.3:c.1397A>T	XP_011517179.1:p.Gln466Leu
XM_011518878.3:c.1406A>T	XP_011517180.1:p.Gln469Leu
XM_011518879.3:c.1397A>T	XP_011517181.1:p.Gln466Leu
XM_011518881.3:c.752A>T	XP_011517183.1:p.Gln251Leu
XM_017014931.1:c.1196A>T	XP_016870420.1:p.Gln399Leu
XM_017014932.1:c.1019A>T	XP_016870421.1:p.Gln340Leu
XM_017014933.1:c.752A>T	XP_016870422.1:p.Gln251Leu
XM_024447617.1:c.752A>T	XP_024303385.1:p.Gln251Leu
XM_024447618.1:c.752A>T	XP_024303386.1:p.Gln251Leu
NM_020822.3:c.1262A>T MANE Select	NP_065873.2:p.Gln421Leu
NM_001272003.2:c.1127A>T	NP_001258932.1:p.Gln376Leu