Canonical Allele Identifier: CA2720685443
Gene: KCNT1 HGNC NCBI

Linked Data

dbSNP Id: rs2131478332

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765788_135765789dup , CM000671.2:g.135765788_135765789dup GRCh38
NC_000009.11:g.138657634_138657635dup , CM000671.1:g.138657634_138657635dup GRCh37
NC_000009.10:g.137797455_137797456dup NCBI36
NG_033070.1:g.68604_68605dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1337+28_1337+29dup MANE Select ENSP00000360822.2:n.1337+28_1337+29dup
ENST00000636003.1:c.27+28_27+29dup
ENST00000636995.1:n.64+28_64+29dup
ENST00000637798.1:n.76+28_76+29dup
ENST00000674572.1:c.1178+28_1178+29dup ENSP00000501742.1:n.1178+28_1178+29dup
ENST00000675090.1:c.1085+28_1085+29dup ENSP00000501833.1:n.1085+28_1085+29dup
ENST00000675399.1:c.1085+28_1085+29dup ENSP00000501932.1:n.1085+28_1085+29dup
ENST00000676421.1:c.1094+28_1094+29dup ENSP00000502322.1:n.1094+28_1094+29dup
ENST00000263604.5:c.1238+28_1238+29dup ENSP00000263604.4:n.1238+28_1238+29dup
ENST00000371757.6:c.1337+28_1337+29dup ENSP00000360822.2:n.1337+28_1337+29dup
ENST00000460750.5:c.*947+28_*947+29dup ENSP00000418777.1:n.*947+28_*947+29dup
ENST00000486577.6:c.1220+28_1220+29dup ENSP00000417578.3:n.1220+28_1220+29dup
ENST00000487664.5:c.1337+28_1337+29dup ENSP00000417851.2:n.1337+28_1337+29dup
ENST00000488444.6:c.1280+28_1280+29dup ENSP00000419007.3:n.1280+28_1280+29dup
ENST00000490355.6:c.1280+28_1280+29dup ENSP00000418003.3:n.1280+28_1280+29dup
ENST00000490363.3:n.1156+28_1156+29dup
ENST00000491806.6:c.1280+28_1280+29dup ENSP00000419086.3:n.1280+28_1280+29dup
ENST00000628528.2:c.1202+28_1202+29dup ENSP00000486374.1:n.1202+28_1202+29dup
ENST00000630792.2:c.1178+28_1178+29dup ENSP00000486486.1:n.1178+28_1178+29dup
ENST00000631073.2:c.1280+28_1280+29dup ENSP00000486130.1:n.1280+28_1280+29dup
NM_001272003.1:c.1202+28_1202+29dup NP_001258932.1:n.1202+28_1202+29dup
NM_020822.2:c.1337+28_1337+29dup NP_065873.2:n.1337+28_1337+29dup
XM_011518877.1:c.1472+28_1472+29dup XP_011517179.1:n.1472+28_1472+29dup
XM_011518878.1:c.1481+28_1481+29dup XP_011517180.1:n.1481+28_1481+29dup
XM_011518879.1:c.1472+28_1472+29dup XP_011517181.1:n.1472+28_1472+29dup
XM_011518880.1:c.1238+28_1238+29dup XP_011517182.1:n.1238+28_1238+29dup
XM_011518881.1:c.827+28_827+29dup XP_011517183.1:n.827+28_827+29dup
XM_011518877.3:c.1472+28_1472+29dup XP_011517179.1:n.1472+28_1472+29dup
XM_011518878.3:c.1481+28_1481+29dup XP_011517180.1:n.1481+28_1481+29dup
XM_011518879.3:c.1472+28_1472+29dup XP_011517181.1:n.1472+28_1472+29dup
XM_011518881.3:c.827+28_827+29dup XP_011517183.1:n.827+28_827+29dup
XM_017014931.1:c.1271+28_1271+29dup XP_016870420.1:n.1271+28_1271+29dup
XM_017014932.1:c.1094+28_1094+29dup XP_016870421.1:n.1094+28_1094+29dup
XM_017014933.1:c.827+28_827+29dup XP_016870422.1:n.827+28_827+29dup
XM_024447617.1:c.827+28_827+29dup XP_024303385.1:n.827+28_827+29dup
XM_024447618.1:c.827+28_827+29dup XP_024303386.1:n.827+28_827+29dup
NM_020822.3:c.1337+28_1337+29dup MANE Select NP_065873.2:n.1337+28_1337+29dup
NM_001272003.2:c.1202+28_1202+29dup NP_001258932.1:n.1202+28_1202+29dup