Canonical Allele Identifier: CA375505948
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135770001T>C , CM000671.2:g.135770001T>C GRCh38
NC_000009.11:g.138661847T>C , CM000671.1:g.138661847T>C GRCh37
NC_000009.10:g.137801668T>C NCBI36
NG_033070.1:g.72817T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1565T>C MANE Select ENSP00000360822.2:p.Ile522Thr
ENST00000674572.1:c.1406T>C ENSP00000501742.1:p.Ile469Thr
ENST00000675090.1:c.1313T>C ENSP00000501833.1:p.Ile438Thr
ENST00000675399.1:c.1313T>C ENSP00000501932.1:p.Ile438Thr
ENST00000676421.1:c.1322T>C ENSP00000502322.1:p.Ile441Thr
ENST00000263604.5:c.1466T>C ENSP00000263604.4:p.Ile489Thr
ENST00000371757.6:c.1565T>C ENSP00000360822.2:p.Ile522Thr
ENST00000460750.5:c.*1175T>C ENSP00000418777.1:n.*1175T>C
ENST00000486577.6:c.1448T>C ENSP00000417578.3:p.Ile483Thr
ENST00000487664.5:c.1565T>C ENSP00000417851.2:p.Ile522Thr
ENST00000488444.6:c.1508T>C ENSP00000419007.3:p.Ile503Thr
ENST00000490355.6:c.1508T>C ENSP00000418003.3:p.Ile503Thr
ENST00000490363.3:n.1384T>C
ENST00000491806.6:c.1508T>C ENSP00000419086.3:p.Ile503Thr
ENST00000628528.2:c.1430T>C ENSP00000486374.1:p.Ile477Thr
ENST00000630792.2:c.1406T>C ENSP00000486486.1:p.Ile469Thr
ENST00000631073.2:c.1508T>C ENSP00000486130.1:p.Ile503Thr
NM_001272003.1:c.1430T>C NP_001258932.1:p.Ile477Thr
NM_020822.2:c.1565T>C NP_065873.2:p.Ile522Thr
XM_011518877.1:c.1700T>C XP_011517179.1:p.Ile567Thr
XM_011518878.1:c.1709T>C XP_011517180.1:p.Ile570Thr
XM_011518879.1:c.1700T>C XP_011517181.1:p.Ile567Thr
XM_011518880.1:c.1466T>C XP_011517182.1:p.Ile489Thr
XM_011518881.1:c.1055T>C XP_011517183.1:p.Ile352Thr
XM_011518877.3:c.1700T>C XP_011517179.1:p.Ile567Thr
XM_011518878.3:c.1709T>C XP_011517180.1:p.Ile570Thr
XM_011518879.3:c.1700T>C XP_011517181.1:p.Ile567Thr
XM_011518881.3:c.1055T>C XP_011517183.1:p.Ile352Thr
XM_017014931.1:c.1499T>C XP_016870420.1:p.Ile500Thr
XM_017014932.1:c.1322T>C XP_016870421.1:p.Ile441Thr
XM_017014933.1:c.1055T>C XP_016870422.1:p.Ile352Thr
XM_024447617.1:c.1055T>C XP_024303385.1:p.Ile352Thr
XM_024447618.1:c.1055T>C XP_024303386.1:p.Ile352Thr
NM_020822.3:c.1565T>C MANE Select NP_065873.2:p.Ile522Thr
NM_001272003.2:c.1430T>C NP_001258932.1:p.Ile477Thr