Canonical Allele Identifier: CA467698127

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 1998683
• ClinVar RCV Id: RCV002796954
• gnomAD v4: 9-135765638-C-A
• MyVariant Identifiers: chr9:g.138657484C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765638C>A , CM000671.2:g.135765638C>A	GRCh38
NC_000009.11:g.138657484C>A , CM000671.1:g.138657484C>A	GRCh37
NC_000009.10:g.137797305C>A	NCBI36
NG_033070.1:g.68454C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1215C>A MANE Select	ENSP00000360822.2:p.Val405=
ENST00000674572.1:c.1056C>A	ENSP00000501742.1:p.Val352=
ENST00000675090.1:c.963C>A	ENSP00000501833.1:p.Val321=
ENST00000675399.1:c.963C>A	ENSP00000501932.1:p.Val321=
ENST00000676421.1:c.972C>A	ENSP00000502322.1:p.Val324=
ENST00000263604.5:c.1116C>A	ENSP00000263604.4:p.Val372=
ENST00000371757.6:c.1215C>A	ENSP00000360822.2:p.Val405=
ENST00000460750.5:c.*825C>A	ENSP00000418777.1:n.*825C>A
ENST00000486577.6:c.1098C>A	ENSP00000417578.3:p.Val366=
ENST00000487664.5:c.1215C>A	ENSP00000417851.2:p.Val405=
ENST00000488444.6:c.1158C>A	ENSP00000419007.3:p.Val386=
ENST00000490355.6:c.1158C>A	ENSP00000418003.3:p.Val386=
ENST00000490363.3:n.1034C>A
ENST00000491806.6:c.1158C>A	ENSP00000419086.3:p.Val386=
ENST00000628528.2:c.1080C>A	ENSP00000486374.1:p.Val360=
ENST00000630792.2:c.1056C>A	ENSP00000486486.1:p.Val352=
ENST00000631073.2:c.1158C>A	ENSP00000486130.1:p.Val386=
NM_001272003.1:c.1080C>A	NP_001258932.1:p.Val360=
NM_020822.2:c.1215C>A	NP_065873.2:p.Val405=
XM_011518877.1:c.1350C>A	XP_011517179.1:p.Val450=
XM_011518878.1:c.1359C>A	XP_011517180.1:p.Val453=
XM_011518879.1:c.1350C>A	XP_011517181.1:p.Val450=
XM_011518880.1:c.1116C>A	XP_011517182.1:p.Val372=
XM_011518881.1:c.705C>A	XP_011517183.1:p.Val235=
XM_011518877.3:c.1350C>A	XP_011517179.1:p.Val450=
XM_011518878.3:c.1359C>A	XP_011517180.1:p.Val453=
XM_011518879.3:c.1350C>A	XP_011517181.1:p.Val450=
XM_011518881.3:c.705C>A	XP_011517183.1:p.Val235=
XM_017014931.1:c.1149C>A	XP_016870420.1:p.Val383=
XM_017014932.1:c.972C>A	XP_016870421.1:p.Val324=
XM_017014933.1:c.705C>A	XP_016870422.1:p.Val235=
XM_024447617.1:c.705C>A	XP_024303385.1:p.Val235=
XM_024447618.1:c.705C>A	XP_024303386.1:p.Val235=
NM_020822.3:c.1215C>A MANE Select	NP_065873.2:p.Val405=
NM_001272003.2:c.1080C>A	NP_001258932.1:p.Val360=