Canonical Allele Identifier: CA5326960

Gene: KCNT1

Linked Data

• dbSNP Id: rs765086659
• ExAC: 9:138661812 G / A
• gnomAD v2: 9-138661812-G-A
• gnomAD v3: 9-135769966-G-A
• gnomAD v4: 9-135769966-G-A
• MyVariant Identifiers: chr9:g.138661812G>A (hg19) ; chr9:g.135769966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769966G>A , CM000671.2:g.135769966G>A	GRCh38
NC_000009.11:g.138661812G>A , CM000671.1:g.138661812G>A	GRCh37
NC_000009.10:g.137801633G>A	NCBI36
NG_033070.1:g.72782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1530G>A MANE Select	ENSP00000360822.2:p.Glu510=
ENST00000674572.1:c.1371G>A	ENSP00000501742.1:p.Glu457=
ENST00000675090.1:c.1278G>A	ENSP00000501833.1:p.Glu426=
ENST00000675399.1:c.1278G>A	ENSP00000501932.1:p.Glu426=
ENST00000676421.1:c.1287G>A	ENSP00000502322.1:p.Glu429=
ENST00000263604.5:c.1431G>A	ENSP00000263604.4:p.Glu477=
ENST00000371757.6:c.1530G>A	ENSP00000360822.2:p.Glu510=
ENST00000460750.5:c.*1140G>A	ENSP00000418777.1:n.*1140G>A
ENST00000486577.6:c.1413G>A	ENSP00000417578.3:p.Glu471=
ENST00000487664.5:c.1530G>A	ENSP00000417851.2:p.Glu510=
ENST00000488444.6:c.1473G>A	ENSP00000419007.3:p.Glu491=
ENST00000490355.6:c.1473G>A	ENSP00000418003.3:p.Glu491=
ENST00000490363.3:n.1349G>A
ENST00000491806.6:c.1473G>A	ENSP00000419086.3:p.Glu491=
ENST00000628528.2:c.1395G>A	ENSP00000486374.1:p.Glu465=
ENST00000630792.2:c.1371G>A	ENSP00000486486.1:p.Glu457=
ENST00000631073.2:c.1473G>A	ENSP00000486130.1:p.Glu491=
NM_001272003.1:c.1395G>A	NP_001258932.1:p.Glu465=
NM_020822.2:c.1530G>A	NP_065873.2:p.Glu510=
XM_011518877.1:c.1665G>A	XP_011517179.1:p.Glu555=
XM_011518878.1:c.1674G>A	XP_011517180.1:p.Glu558=
XM_011518879.1:c.1665G>A	XP_011517181.1:p.Glu555=
XM_011518880.1:c.1431G>A	XP_011517182.1:p.Glu477=
XM_011518881.1:c.1020G>A	XP_011517183.1:p.Glu340=
XM_011518877.3:c.1665G>A	XP_011517179.1:p.Glu555=
XM_011518878.3:c.1674G>A	XP_011517180.1:p.Glu558=
XM_011518879.3:c.1665G>A	XP_011517181.1:p.Glu555=
XM_011518881.3:c.1020G>A	XP_011517183.1:p.Glu340=
XM_017014931.1:c.1464G>A	XP_016870420.1:p.Glu488=
XM_017014932.1:c.1287G>A	XP_016870421.1:p.Glu429=
XM_017014933.1:c.1020G>A	XP_016870422.1:p.Glu340=
XM_024447617.1:c.1020G>A	XP_024303385.1:p.Glu340=
XM_024447618.1:c.1020G>A	XP_024303386.1:p.Glu340=
NM_020822.3:c.1530G>A MANE Select	NP_065873.2:p.Glu510=
NM_001272003.2:c.1395G>A	NP_001258932.1:p.Glu465=