Canonical Allele Identifier: CA5326837

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 388105
• ClinVar RCV Id: RCV002313108
• dbSNP Id: rs199996353
• ExAC: 9:138657527 C / T
• gnomAD v2: 9-138657527-C-T
• gnomAD v3: 9-135765681-C-T
• gnomAD v4: 9-135765681-C-T
• COSMIC: COSM3655609 ; COSM3655610
• MyVariant Identifiers: chr9:g.138657527C>T (hg19) ; chr9:g.135765681C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765681C>T , CM000671.2:g.135765681C>T	GRCh38
NC_000009.11:g.138657527C>T , CM000671.1:g.138657527C>T	GRCh37
NC_000009.10:g.137797348C>T	NCBI36
NG_033070.1:g.68497C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1258C>T MANE Select	ENSP00000360822.2:p.Leu420=
ENST00000674572.1:c.1099C>T	ENSP00000501742.1:p.Leu367=
ENST00000675090.1:c.1006C>T	ENSP00000501833.1:p.Leu336=
ENST00000675399.1:c.1006C>T	ENSP00000501932.1:p.Leu336=
ENST00000676421.1:c.1015C>T	ENSP00000502322.1:p.Leu339=
ENST00000263604.5:c.1159C>T	ENSP00000263604.4:p.Leu387=
ENST00000371757.6:c.1258C>T	ENSP00000360822.2:p.Leu420=
ENST00000460750.5:c.*868C>T	ENSP00000418777.1:n.*868C>T
ENST00000486577.6:c.1141C>T	ENSP00000417578.3:p.Leu381=
ENST00000487664.5:c.1258C>T	ENSP00000417851.2:p.Leu420=
ENST00000488444.6:c.1201C>T	ENSP00000419007.3:p.Leu401=
ENST00000490355.6:c.1201C>T	ENSP00000418003.3:p.Leu401=
ENST00000490363.3:n.1077C>T
ENST00000491806.6:c.1201C>T	ENSP00000419086.3:p.Leu401=
ENST00000628528.2:c.1123C>T	ENSP00000486374.1:p.Leu375=
ENST00000630792.2:c.1099C>T	ENSP00000486486.1:p.Leu367=
ENST00000631073.2:c.1201C>T	ENSP00000486130.1:p.Leu401=
NM_001272003.1:c.1123C>T	NP_001258932.1:p.Leu375=
NM_020822.2:c.1258C>T	NP_065873.2:p.Leu420=
XM_011518877.1:c.1393C>T	XP_011517179.1:p.Leu465=
XM_011518878.1:c.1402C>T	XP_011517180.1:p.Leu468=
XM_011518879.1:c.1393C>T	XP_011517181.1:p.Leu465=
XM_011518880.1:c.1159C>T	XP_011517182.1:p.Leu387=
XM_011518881.1:c.748C>T	XP_011517183.1:p.Leu250=
XM_011518877.3:c.1393C>T	XP_011517179.1:p.Leu465=
XM_011518878.3:c.1402C>T	XP_011517180.1:p.Leu468=
XM_011518879.3:c.1393C>T	XP_011517181.1:p.Leu465=
XM_011518881.3:c.748C>T	XP_011517183.1:p.Leu250=
XM_017014931.1:c.1192C>T	XP_016870420.1:p.Leu398=
XM_017014932.1:c.1015C>T	XP_016870421.1:p.Leu339=
XM_017014933.1:c.748C>T	XP_016870422.1:p.Leu250=
XM_024447617.1:c.748C>T	XP_024303385.1:p.Leu250=
XM_024447618.1:c.748C>T	XP_024303386.1:p.Leu250=
NM_020822.3:c.1258C>T MANE Select	NP_065873.2:p.Leu420=
NM_001272003.2:c.1123C>T	NP_001258932.1:p.Leu375=