Canonical Allele Identifier: CA5328027

Gene: KCNT1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135792147G>A , CM000671.2:g.135792147G>A	GRCh38
NC_000009.11:g.138683993G>A , CM000671.1:g.138683993G>A	GRCh37
NC_000009.10:g.137823814G>A	NCBI36
NG_033070.1:g.94963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3694G>A MANE Select	ENSP00000360822.2:p.Glu1232Lys
ENST00000674572.1:c.3598G>A	ENSP00000501742.1:p.Glu1200Lys
ENST00000675090.1:c.3442G>A	ENSP00000501833.1:p.Glu1148Lys
ENST00000675399.1:c.3505G>A	ENSP00000501932.1:p.Glu1169Lys
ENST00000676421.1:c.3514G>A	ENSP00000502322.1:p.Glu1172Lys
ENST00000263604.5:c.3658G>A	ENSP00000263604.4:p.Glu1220Lys
ENST00000371757.6:c.3694G>A	ENSP00000360822.2:p.Glu1232Lys
ENST00000460750.5:c.*3367G>A	ENSP00000418777.1:n.*3367G>A
ENST00000475008.1:n.3000G>A
ENST00000486577.6:c.3640G>A	ENSP00000417578.3:p.Glu1214Lys
ENST00000487664.5:c.3757G>A	ENSP00000417851.2:p.Glu1253Lys
ENST00000488444.6:c.3679G>A	ENSP00000419007.3:p.Glu1227Lys
ENST00000490355.6:c.3694G>A	ENSP00000418003.3:p.Glu1232Lys
ENST00000491806.6:c.3637G>A	ENSP00000419086.3:p.Glu1213Lys
ENST00000628528.2:c.3622G>A	ENSP00000486374.1:p.Glu1208Lys
ENST00000630792.2:c.3592G>A	ENSP00000486486.1:p.Glu1198Lys
ENST00000631073.2:c.3700G>A	ENSP00000486130.1:p.Glu1234Lys
NM_001272003.1:c.3622G>A	NP_001258932.1:p.Glu1208Lys
NM_020822.2:c.3694G>A	NP_065873.2:p.Glu1232Lys
XM_011518877.1:c.3892G>A	XP_011517179.1:p.Glu1298Lys
XM_011518878.1:c.3838G>A	XP_011517180.1:p.Glu1280Lys
XM_011518879.1:c.3829G>A	XP_011517181.1:p.Glu1277Lys
XM_011518880.1:c.3658G>A	XP_011517182.1:p.Glu1220Lys
XM_011518881.1:c.3247G>A	XP_011517183.1:p.Glu1083Lys
XM_011518877.3:c.3892G>A	XP_011517179.1:p.Glu1298Lys
XM_011518878.3:c.3838G>A	XP_011517180.1:p.Glu1280Lys
XM_011518879.3:c.3829G>A	XP_011517181.1:p.Glu1277Lys
XM_011518881.3:c.3247G>A	XP_011517183.1:p.Glu1083Lys
XM_017014931.1:c.3691G>A	XP_016870420.1:p.Glu1231Lys
XM_017014932.1:c.3514G>A	XP_016870421.1:p.Glu1172Lys
XM_017014933.1:c.3247G>A	XP_016870422.1:p.Glu1083Lys
XM_024447617.1:c.3247G>A	XP_024303385.1:p.Glu1083Lys
XM_024447618.1:c.3247G>A	XP_024303386.1:p.Glu1083Lys
NM_020822.3:c.3694G>A MANE Select	NP_065873.2:p.Glu1232Lys
NM_001272003.2:c.3622G>A	NP_001258932.1:p.Glu1208Lys