Canonical Allele Identifier: CA467698696

Gene: KCNT1

Linked Data

• dbSNP Id: rs1333549995
• gnomAD v2: 9-138667156-G-A
• gnomAD v4: 9-135775310-G-A
• MyVariant Identifiers: chr9:g.138667156G>A (hg19) ; chr9:g.135775310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775310G>A , CM000671.2:g.135775310G>A	GRCh38
NC_000009.11:g.138667156G>A , CM000671.1:g.138667156G>A	GRCh37
NC_000009.10:g.137806977G>A	NCBI36
NG_033070.1:g.78126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2244G>A MANE Select	ENSP00000360822.2:p.Glu748=
ENST00000674572.1:c.2085G>A	ENSP00000501742.1:p.Glu695=
ENST00000675090.1:c.1992G>A	ENSP00000501833.1:p.Glu664=
ENST00000675399.1:c.1992G>A	ENSP00000501932.1:p.Glu664=
ENST00000676421.1:c.2001G>A	ENSP00000502322.1:p.Glu667=
ENST00000263604.5:c.2145G>A	ENSP00000263604.4:p.Glu715=
ENST00000371757.6:c.2244G>A	ENSP00000360822.2:p.Glu748=
ENST00000460750.5:c.*1854G>A	ENSP00000418777.1:n.*1854G>A
ENST00000486577.6:c.2127G>A	ENSP00000417578.3:p.Glu709=
ENST00000487664.5:c.2244G>A	ENSP00000417851.2:p.Glu748=
ENST00000488444.6:c.2187G>A	ENSP00000419007.3:p.Glu729=
ENST00000490355.6:c.2181G>A	ENSP00000418003.3:p.Glu727=
ENST00000490363.3:n.2063G>A
ENST00000491806.6:c.2187G>A	ENSP00000419086.3:p.Glu729=
ENST00000628528.2:c.2109G>A	ENSP00000486374.1:p.Glu703=
ENST00000630792.2:c.2079G>A	ENSP00000486486.1:p.Glu693=
ENST00000631073.2:c.2187G>A	ENSP00000486130.1:p.Glu729=
ENST00000631193.1:c.93G>A	ENSP00000486830.1:p.Glu31=
NM_001272003.1:c.2109G>A	NP_001258932.1:p.Glu703=
NM_020822.2:c.2244G>A	NP_065873.2:p.Glu748=
XM_011518877.1:c.2379G>A	XP_011517179.1:p.Glu793=
XM_011518878.1:c.2388G>A	XP_011517180.1:p.Glu796=
XM_011518879.1:c.2379G>A	XP_011517181.1:p.Glu793=
XM_011518880.1:c.2145G>A	XP_011517182.1:p.Glu715=
XM_011518881.1:c.1734G>A	XP_011517183.1:p.Glu578=
XM_011518877.3:c.2379G>A	XP_011517179.1:p.Glu793=
XM_011518878.3:c.2388G>A	XP_011517180.1:p.Glu796=
XM_011518879.3:c.2379G>A	XP_011517181.1:p.Glu793=
XM_011518881.3:c.1734G>A	XP_011517183.1:p.Glu578=
XM_017014931.1:c.2178G>A	XP_016870420.1:p.Glu726=
XM_017014932.1:c.2001G>A	XP_016870421.1:p.Glu667=
XM_017014933.1:c.1734G>A	XP_016870422.1:p.Glu578=
XM_024447617.1:c.1734G>A	XP_024303385.1:p.Glu578=
XM_024447618.1:c.1734G>A	XP_024303386.1:p.Glu578=
NM_020822.3:c.2244G>A MANE Select	NP_065873.2:p.Glu748=
NM_001272003.2:c.2109G>A	NP_001258932.1:p.Glu703=