Canonical Allele Identifier: CA375506881
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135770444A>T , CM000671.2:g.135770444A>T GRCh38
NC_000009.11:g.138662290A>T , CM000671.1:g.138662290A>T GRCh37
NC_000009.10:g.137802111A>T NCBI36
NG_033070.1:g.73260A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1766A>T MANE Select ENSP00000360822.2:p.Lys589Met
ENST00000674572.1:c.1607A>T ENSP00000501742.1:p.Lys536Met
ENST00000675090.1:c.1514A>T ENSP00000501833.1:p.Lys505Met
ENST00000675399.1:c.1514A>T ENSP00000501932.1:p.Lys505Met
ENST00000676421.1:c.1523A>T ENSP00000502322.1:p.Lys508Met
ENST00000263604.5:c.1667A>T ENSP00000263604.4:p.Lys556Met
ENST00000371757.6:c.1766A>T ENSP00000360822.2:p.Lys589Met
ENST00000460750.5:c.*1376A>T ENSP00000418777.1:n.*1376A>T
ENST00000486577.6:c.1649A>T ENSP00000417578.3:p.Lys550Met
ENST00000487664.5:c.1766A>T ENSP00000417851.2:p.Lys589Met
ENST00000488444.6:c.1709A>T ENSP00000419007.3:p.Lys570Met
ENST00000490355.6:c.1709A>T ENSP00000418003.3:p.Lys570Met
ENST00000490363.3:n.1585A>T
ENST00000491806.6:c.1709A>T ENSP00000419086.3:p.Lys570Met
ENST00000628528.2:c.1631A>T ENSP00000486374.1:p.Lys544Met
ENST00000630792.2:c.1607A>T ENSP00000486486.1:p.Lys536Met
ENST00000631073.2:c.1709A>T ENSP00000486130.1:p.Lys570Met
NM_001272003.1:c.1631A>T NP_001258932.1:p.Lys544Met
NM_020822.2:c.1766A>T NP_065873.2:p.Lys589Met
XM_011518877.1:c.1901A>T XP_011517179.1:p.Lys634Met
XM_011518878.1:c.1910A>T XP_011517180.1:p.Lys637Met
XM_011518879.1:c.1901A>T XP_011517181.1:p.Lys634Met
XM_011518880.1:c.1667A>T XP_011517182.1:p.Lys556Met
XM_011518881.1:c.1256A>T XP_011517183.1:p.Lys419Met
XM_011518877.3:c.1901A>T XP_011517179.1:p.Lys634Met
XM_011518878.3:c.1910A>T XP_011517180.1:p.Lys637Met
XM_011518879.3:c.1901A>T XP_011517181.1:p.Lys634Met
XM_011518881.3:c.1256A>T XP_011517183.1:p.Lys419Met
XM_017014931.1:c.1700A>T XP_016870420.1:p.Lys567Met
XM_017014932.1:c.1523A>T XP_016870421.1:p.Lys508Met
XM_017014933.1:c.1256A>T XP_016870422.1:p.Lys419Met
XM_024447617.1:c.1256A>T XP_024303385.1:p.Lys419Met
XM_024447618.1:c.1256A>T XP_024303386.1:p.Lys419Met
NM_020822.3:c.1766A>T MANE Select NP_065873.2:p.Lys589Met
NM_001272003.2:c.1631A>T NP_001258932.1:p.Lys544Met