Canonical Allele Identifier: CA10605353
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286069
ClinVar RCV Id: RCV000323077
dbSNP Id: rs886043301

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765676G>A , CM000671.2:g.135765676G>A GRCh38
NC_000009.11:g.138657522G>A , CM000671.1:g.138657522G>A GRCh37
NC_000009.10:g.137797343G>A NCBI36
NG_033070.1:g.68492G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1253G>A MANE Select ENSP00000360822.2:p.Arg418Lys
ENST00000674572.1:c.1094G>A ENSP00000501742.1:p.Arg365Lys
ENST00000675090.1:c.1001G>A ENSP00000501833.1:p.Arg334Lys
ENST00000675399.1:c.1001G>A ENSP00000501932.1:p.Arg334Lys
ENST00000676421.1:c.1010G>A ENSP00000502322.1:p.Arg337Lys
ENST00000263604.5:c.1154G>A ENSP00000263604.4:p.Arg385Lys
ENST00000371757.6:c.1253G>A ENSP00000360822.2:p.Arg418Lys
ENST00000460750.5:c.*863G>A ENSP00000418777.1:n.*863G>A
ENST00000486577.6:c.1136G>A ENSP00000417578.3:p.Arg379Lys
ENST00000487664.5:c.1253G>A ENSP00000417851.2:p.Arg418Lys
ENST00000488444.6:c.1196G>A ENSP00000419007.3:p.Arg399Lys
ENST00000490355.6:c.1196G>A ENSP00000418003.3:p.Arg399Lys
ENST00000490363.3:n.1072G>A
ENST00000491806.6:c.1196G>A ENSP00000419086.3:p.Arg399Lys
ENST00000628528.2:c.1118G>A ENSP00000486374.1:p.Arg373Lys
ENST00000630792.2:c.1094G>A ENSP00000486486.1:p.Arg365Lys
ENST00000631073.2:c.1196G>A ENSP00000486130.1:p.Arg399Lys
NM_001272003.1:c.1118G>A NP_001258932.1:p.Arg373Lys
NM_020822.2:c.1253G>A NP_065873.2:p.Arg418Lys
XM_011518877.1:c.1388G>A XP_011517179.1:p.Arg463Lys
XM_011518878.1:c.1397G>A XP_011517180.1:p.Arg466Lys
XM_011518879.1:c.1388G>A XP_011517181.1:p.Arg463Lys
XM_011518880.1:c.1154G>A XP_011517182.1:p.Arg385Lys
XM_011518881.1:c.743G>A XP_011517183.1:p.Arg248Lys
XM_011518877.3:c.1388G>A XP_011517179.1:p.Arg463Lys
XM_011518878.3:c.1397G>A XP_011517180.1:p.Arg466Lys
XM_011518879.3:c.1388G>A XP_011517181.1:p.Arg463Lys
XM_011518881.3:c.743G>A XP_011517183.1:p.Arg248Lys
XM_017014931.1:c.1187G>A XP_016870420.1:p.Arg396Lys
XM_017014932.1:c.1010G>A XP_016870421.1:p.Arg337Lys
XM_017014933.1:c.743G>A XP_016870422.1:p.Arg248Lys
XM_024447617.1:c.743G>A XP_024303385.1:p.Arg248Lys
XM_024447618.1:c.743G>A XP_024303386.1:p.Arg248Lys
NM_020822.3:c.1253G>A MANE Select NP_065873.2:p.Arg418Lys
NM_001272003.2:c.1118G>A NP_001258932.1:p.Arg373Lys