Canonical Allele Identifier: CA375501368
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1253G>T MANE Select ENSP00000360822.2:p.Arg418Ile
ENST00000674572.1:c.1094G>T ENSP00000501742.1:p.Arg365Ile
ENST00000675090.1:c.1001G>T ENSP00000501833.1:p.Arg334Ile
ENST00000675399.1:c.1001G>T ENSP00000501932.1:p.Arg334Ile
ENST00000676421.1:c.1010G>T ENSP00000502322.1:p.Arg337Ile
ENST00000263604.5:c.1154G>T ENSP00000263604.4:p.Arg385Ile
ENST00000371757.6:c.1253G>T ENSP00000360822.2:p.Arg418Ile
ENST00000460750.5:c.*863G>T ENSP00000418777.1:n.*863G>T
ENST00000486577.6:c.1136G>T ENSP00000417578.3:p.Arg379Ile
ENST00000487664.5:c.1253G>T ENSP00000417851.2:p.Arg418Ile
ENST00000488444.6:c.1196G>T ENSP00000419007.3:p.Arg399Ile
ENST00000490355.6:c.1196G>T ENSP00000418003.3:p.Arg399Ile
ENST00000490363.3:n.1072G>T
ENST00000491806.6:c.1196G>T ENSP00000419086.3:p.Arg399Ile
ENST00000628528.2:c.1118G>T ENSP00000486374.1:p.Arg373Ile
ENST00000630792.2:c.1094G>T ENSP00000486486.1:p.Arg365Ile
ENST00000631073.2:c.1196G>T ENSP00000486130.1:p.Arg399Ile
NM_001272003.1:c.1118G>T NP_001258932.1:p.Arg373Ile
NM_020822.2:c.1253G>T NP_065873.2:p.Arg418Ile
XM_011518877.1:c.1388G>T XP_011517179.1:p.Arg463Ile
XM_011518878.1:c.1397G>T XP_011517180.1:p.Arg466Ile
XM_011518879.1:c.1388G>T XP_011517181.1:p.Arg463Ile
XM_011518880.1:c.1154G>T XP_011517182.1:p.Arg385Ile
XM_011518881.1:c.743G>T XP_011517183.1:p.Arg248Ile
XM_011518877.3:c.1388G>T XP_011517179.1:p.Arg463Ile
XM_011518878.3:c.1397G>T XP_011517180.1:p.Arg466Ile
XM_011518879.3:c.1388G>T XP_011517181.1:p.Arg463Ile
XM_011518881.3:c.743G>T XP_011517183.1:p.Arg248Ile
XM_017014931.1:c.1187G>T XP_016870420.1:p.Arg396Ile
XM_017014932.1:c.1010G>T XP_016870421.1:p.Arg337Ile
XM_017014933.1:c.743G>T XP_016870422.1:p.Arg248Ile
XM_024447617.1:c.743G>T XP_024303385.1:p.Arg248Ile
XM_024447618.1:c.743G>T XP_024303386.1:p.Arg248Ile
NM_020822.3:c.1253G>T MANE Select NP_065873.2:p.Arg418Ile
NM_001272003.2:c.1118G>T NP_001258932.1:p.Arg373Ile