Canonical Allele Identifier: CA375506034
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1215380
ClinVar RCV Id: RCV001585262
dbSNP Id: rs1430492627

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135770043C>T , CM000671.2:g.135770043C>T GRCh38
NC_000009.11:g.138661889C>T , CM000671.1:g.138661889C>T GRCh37
NC_000009.10:g.137801710C>T NCBI36
NG_033070.1:g.72859C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1607C>T MANE Select ENSP00000360822.2:p.Thr536Met
ENST00000674572.1:c.1448C>T ENSP00000501742.1:p.Thr483Met
ENST00000675090.1:c.1355C>T ENSP00000501833.1:p.Thr452Met
ENST00000675399.1:c.1355C>T ENSP00000501932.1:p.Thr452Met
ENST00000676421.1:c.1364C>T ENSP00000502322.1:p.Thr455Met
ENST00000263604.5:c.1508C>T ENSP00000263604.4:p.Thr503Met
ENST00000371757.6:c.1607C>T ENSP00000360822.2:p.Thr536Met
ENST00000460750.5:c.*1217C>T ENSP00000418777.1:n.*1217C>T
ENST00000486577.6:c.1490C>T ENSP00000417578.3:p.Thr497Met
ENST00000487664.5:c.1607C>T ENSP00000417851.2:p.Thr536Met
ENST00000488444.6:c.1550C>T ENSP00000419007.3:p.Thr517Met
ENST00000490355.6:c.1550C>T ENSP00000418003.3:p.Thr517Met
ENST00000490363.3:n.1426C>T
ENST00000491806.6:c.1550C>T ENSP00000419086.3:p.Thr517Met
ENST00000628528.2:c.1472C>T ENSP00000486374.1:p.Thr491Met
ENST00000630792.2:c.1448C>T ENSP00000486486.1:p.Thr483Met
ENST00000631073.2:c.1550C>T ENSP00000486130.1:p.Thr517Met
NM_001272003.1:c.1472C>T NP_001258932.1:p.Thr491Met
NM_020822.2:c.1607C>T NP_065873.2:p.Thr536Met
XM_011518877.1:c.1742C>T XP_011517179.1:p.Thr581Met
XM_011518878.1:c.1751C>T XP_011517180.1:p.Thr584Met
XM_011518879.1:c.1742C>T XP_011517181.1:p.Thr581Met
XM_011518880.1:c.1508C>T XP_011517182.1:p.Thr503Met
XM_011518881.1:c.1097C>T XP_011517183.1:p.Thr366Met
XM_011518877.3:c.1742C>T XP_011517179.1:p.Thr581Met
XM_011518878.3:c.1751C>T XP_011517180.1:p.Thr584Met
XM_011518879.3:c.1742C>T XP_011517181.1:p.Thr581Met
XM_011518881.3:c.1097C>T XP_011517183.1:p.Thr366Met
XM_017014931.1:c.1541C>T XP_016870420.1:p.Thr514Met
XM_017014932.1:c.1364C>T XP_016870421.1:p.Thr455Met
XM_017014933.1:c.1097C>T XP_016870422.1:p.Thr366Met
XM_024447617.1:c.1097C>T XP_024303385.1:p.Thr366Met
XM_024447618.1:c.1097C>T XP_024303386.1:p.Thr366Met
NM_020822.3:c.1607C>T MANE Select NP_065873.2:p.Thr536Met
NM_001272003.2:c.1472C>T NP_001258932.1:p.Thr491Met