Canonical Allele Identifier: CA375491662

Gene: KCNT1

Linked Data

• dbSNP Id: rs958314822
• gnomAD v4: 9-135786309-G-A
• MyVariant Identifiers: chr9:g.138678155G>A (hg19) ; chr9:g.135786309G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135786309G>A , CM000671.2:g.135786309G>A	GRCh38
NC_000009.11:g.138678155G>A , CM000671.1:g.138678155G>A	GRCh37
NC_000009.10:g.137817976G>A	NCBI36
NG_033070.1:g.89125G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3290G>A MANE Select	ENSP00000360822.2:p.Gly1097Asp
ENST00000674572.1:c.3131G>A	ENSP00000501742.1:p.Gly1044Asp
ENST00000675090.1:c.3038G>A	ENSP00000501833.1:p.Gly1013Asp
ENST00000675399.1:c.3038G>A	ENSP00000501932.1:p.Gly1013Asp
ENST00000676421.1:c.3047G>A	ENSP00000502322.1:p.Gly1016Asp
ENST00000263604.5:c.3191G>A	ENSP00000263604.4:p.Gly1064Asp
ENST00000371757.6:c.3290G>A	ENSP00000360822.2:p.Gly1097Asp
ENST00000460750.5:c.*2900G>A	ENSP00000418777.1:n.*2900G>A
ENST00000486577.6:c.3173G>A	ENSP00000417578.3:p.Gly1058Asp
ENST00000487664.5:c.3290G>A	ENSP00000417851.2:p.Gly1097Asp
ENST00000488444.6:c.3212G>A	ENSP00000419007.3:p.Gly1071Asp
ENST00000490355.6:c.3227G>A	ENSP00000418003.3:p.Gly1076Asp
ENST00000490363.3:n.3975G>A
ENST00000491806.6:c.3233G>A	ENSP00000419086.3:p.Gly1078Asp
ENST00000628528.2:c.3155G>A	ENSP00000486374.1:p.Gly1052Asp
ENST00000630792.2:c.3125G>A	ENSP00000486486.1:p.Gly1042Asp
ENST00000631073.2:c.3233G>A	ENSP00000486130.1:p.Gly1078Asp
NM_001272003.1:c.3155G>A	NP_001258932.1:p.Gly1052Asp
NM_020822.2:c.3290G>A	NP_065873.2:p.Gly1097Asp
XM_011518877.1:c.3425G>A	XP_011517179.1:p.Gly1142Asp
XM_011518878.1:c.3434G>A	XP_011517180.1:p.Gly1145Asp
XM_011518879.1:c.3425G>A	XP_011517181.1:p.Gly1142Asp
XM_011518880.1:c.3191G>A	XP_011517182.1:p.Gly1064Asp
XM_011518881.1:c.2780G>A	XP_011517183.1:p.Gly927Asp
XM_011518877.3:c.3425G>A	XP_011517179.1:p.Gly1142Asp
XM_011518878.3:c.3434G>A	XP_011517180.1:p.Gly1145Asp
XM_011518879.3:c.3425G>A	XP_011517181.1:p.Gly1142Asp
XM_011518881.3:c.2780G>A	XP_011517183.1:p.Gly927Asp
XM_017014931.1:c.3224G>A	XP_016870420.1:p.Gly1075Asp
XM_017014932.1:c.3047G>A	XP_016870421.1:p.Gly1016Asp
XM_017014933.1:c.2780G>A	XP_016870422.1:p.Gly927Asp
XM_024447617.1:c.2780G>A	XP_024303385.1:p.Gly927Asp
XM_024447618.1:c.2780G>A	XP_024303386.1:p.Gly927Asp
NM_020822.3:c.3290G>A MANE Select	NP_065873.2:p.Gly1097Asp
NM_001272003.2:c.3155G>A	NP_001258932.1:p.Gly1052Asp