Canonical Allele Identifier: CA5326764

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 373294
• ClinVar RCV Id: RCV002270240 ; RCV002270241
• dbSNP Id: rs758152252
• ExAC: 9:138656908 G / A
• gnomAD v2: 9-138656908-G-A
• gnomAD v3: 9-135765062-G-A
• gnomAD v4: 9-135765062-G-A
• COSMIC: COSM5565736 ; COSM5565737
• MyVariant Identifiers: chr9:g.138656908G>A (hg19) ; chr9:g.135765062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765062G>A , CM000671.2:g.135765062G>A	GRCh38
NC_000009.11:g.138656908G>A , CM000671.1:g.138656908G>A	GRCh37
NC_000009.10:g.137796729G>A	NCBI36
NG_033070.1:g.67878G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1067G>A MANE Select	ENSP00000360822.2:p.Arg356Gln
ENST00000674572.1:c.908G>A	ENSP00000501742.1:p.Arg303Gln
ENST00000675090.1:c.815G>A	ENSP00000501833.1:p.Arg272Gln
ENST00000675399.1:c.815G>A	ENSP00000501932.1:p.Arg272Gln
ENST00000676421.1:c.824G>A	ENSP00000502322.1:p.Arg275Gln
ENST00000263604.5:c.968G>A	ENSP00000263604.4:p.Arg323Gln
ENST00000371757.6:c.1067G>A	ENSP00000360822.2:p.Arg356Gln
ENST00000460750.5:c.*677G>A	ENSP00000418777.1:n.*677G>A
ENST00000486577.6:c.950G>A	ENSP00000417578.3:p.Arg317Gln
ENST00000487664.5:c.1067G>A	ENSP00000417851.2:p.Arg356Gln
ENST00000488444.6:c.1010G>A	ENSP00000419007.3:p.Arg337Gln
ENST00000490355.6:c.1010G>A	ENSP00000418003.3:p.Arg337Gln
ENST00000490363.3:n.886G>A
ENST00000491806.6:c.1010G>A	ENSP00000419086.3:p.Arg337Gln
ENST00000628528.2:c.932G>A	ENSP00000486374.1:p.Arg311Gln
ENST00000630792.2:c.908G>A	ENSP00000486486.1:p.Arg303Gln
ENST00000631073.2:c.1010G>A	ENSP00000486130.1:p.Arg337Gln
NM_001272003.1:c.932G>A	NP_001258932.1:p.Arg311Gln
NM_020822.2:c.1067G>A	NP_065873.2:p.Arg356Gln
XM_011518877.1:c.1202G>A	XP_011517179.1:p.Arg401Gln
XM_011518878.1:c.1211G>A	XP_011517180.1:p.Arg404Gln
XM_011518879.1:c.1202G>A	XP_011517181.1:p.Arg401Gln
XM_011518880.1:c.968G>A	XP_011517182.1:p.Arg323Gln
XM_011518881.1:c.557G>A	XP_011517183.1:p.Arg186Gln
XM_011518877.3:c.1202G>A	XP_011517179.1:p.Arg401Gln
XM_011518878.3:c.1211G>A	XP_011517180.1:p.Arg404Gln
XM_011518879.3:c.1202G>A	XP_011517181.1:p.Arg401Gln
XM_011518881.3:c.557G>A	XP_011517183.1:p.Arg186Gln
XM_017014931.1:c.1001G>A	XP_016870420.1:p.Arg334Gln
XM_017014932.1:c.824G>A	XP_016870421.1:p.Arg275Gln
XM_017014933.1:c.557G>A	XP_016870422.1:p.Arg186Gln
XM_024447617.1:c.557G>A	XP_024303385.1:p.Arg186Gln
XM_024447618.1:c.557G>A	XP_024303386.1:p.Arg186Gln
NM_020822.3:c.1067G>A MANE Select	NP_065873.2:p.Arg356Gln
NM_001272003.2:c.932G>A	NP_001258932.1:p.Arg311Gln