Canonical Allele Identifier: CA375501188
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765651A>G , CM000671.2:g.135765651A>G GRCh38
NC_000009.11:g.138657497A>G , CM000671.1:g.138657497A>G GRCh37
NC_000009.10:g.137797318A>G NCBI36
NG_033070.1:g.68467A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1228A>G MANE Select ENSP00000360822.2:p.Thr410Ala
ENST00000674572.1:c.1069A>G ENSP00000501742.1:p.Thr357Ala
ENST00000675090.1:c.976A>G ENSP00000501833.1:p.Thr326Ala
ENST00000675399.1:c.976A>G ENSP00000501932.1:p.Thr326Ala
ENST00000676421.1:c.985A>G ENSP00000502322.1:p.Thr329Ala
ENST00000263604.5:c.1129A>G ENSP00000263604.4:p.Thr377Ala
ENST00000371757.6:c.1228A>G ENSP00000360822.2:p.Thr410Ala
ENST00000460750.5:c.*838A>G ENSP00000418777.1:n.*838A>G
ENST00000486577.6:c.1111A>G ENSP00000417578.3:p.Thr371Ala
ENST00000487664.5:c.1228A>G ENSP00000417851.2:p.Thr410Ala
ENST00000488444.6:c.1171A>G ENSP00000419007.3:p.Thr391Ala
ENST00000490355.6:c.1171A>G ENSP00000418003.3:p.Thr391Ala
ENST00000490363.3:n.1047A>G
ENST00000491806.6:c.1171A>G ENSP00000419086.3:p.Thr391Ala
ENST00000628528.2:c.1093A>G ENSP00000486374.1:p.Thr365Ala
ENST00000630792.2:c.1069A>G ENSP00000486486.1:p.Thr357Ala
ENST00000631073.2:c.1171A>G ENSP00000486130.1:p.Thr391Ala
NM_001272003.1:c.1093A>G NP_001258932.1:p.Thr365Ala
NM_020822.2:c.1228A>G NP_065873.2:p.Thr410Ala
XM_011518877.1:c.1363A>G XP_011517179.1:p.Thr455Ala
XM_011518878.1:c.1372A>G XP_011517180.1:p.Thr458Ala
XM_011518879.1:c.1363A>G XP_011517181.1:p.Thr455Ala
XM_011518880.1:c.1129A>G XP_011517182.1:p.Thr377Ala
XM_011518881.1:c.718A>G XP_011517183.1:p.Thr240Ala
XM_011518877.3:c.1363A>G XP_011517179.1:p.Thr455Ala
XM_011518878.3:c.1372A>G XP_011517180.1:p.Thr458Ala
XM_011518879.3:c.1363A>G XP_011517181.1:p.Thr455Ala
XM_011518881.3:c.718A>G XP_011517183.1:p.Thr240Ala
XM_017014931.1:c.1162A>G XP_016870420.1:p.Thr388Ala
XM_017014932.1:c.985A>G XP_016870421.1:p.Thr329Ala
XM_017014933.1:c.718A>G XP_016870422.1:p.Thr240Ala
XM_024447617.1:c.718A>G XP_024303385.1:p.Thr240Ala
XM_024447618.1:c.718A>G XP_024303386.1:p.Thr240Ala
NM_020822.3:c.1228A>G MANE Select NP_065873.2:p.Thr410Ala
NM_001272003.2:c.1093A>G NP_001258932.1:p.Thr365Ala