Canonical Allele Identifier: CA375505927
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135769992T>G , CM000671.2:g.135769992T>G GRCh38
NC_000009.11:g.138661838T>G , CM000671.1:g.138661838T>G GRCh37
NC_000009.10:g.137801659T>G NCBI36
NG_033070.1:g.72808T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1556T>G MANE Select ENSP00000360822.2:p.Leu519Arg
ENST00000674572.1:c.1397T>G ENSP00000501742.1:p.Leu466Arg
ENST00000675090.1:c.1304T>G ENSP00000501833.1:p.Leu435Arg
ENST00000675399.1:c.1304T>G ENSP00000501932.1:p.Leu435Arg
ENST00000676421.1:c.1313T>G ENSP00000502322.1:p.Leu438Arg
ENST00000263604.5:c.1457T>G ENSP00000263604.4:p.Leu486Arg
ENST00000371757.6:c.1556T>G ENSP00000360822.2:p.Leu519Arg
ENST00000460750.5:c.*1166T>G ENSP00000418777.1:n.*1166T>G
ENST00000486577.6:c.1439T>G ENSP00000417578.3:p.Leu480Arg
ENST00000487664.5:c.1556T>G ENSP00000417851.2:p.Leu519Arg
ENST00000488444.6:c.1499T>G ENSP00000419007.3:p.Leu500Arg
ENST00000490355.6:c.1499T>G ENSP00000418003.3:p.Leu500Arg
ENST00000490363.3:n.1375T>G
ENST00000491806.6:c.1499T>G ENSP00000419086.3:p.Leu500Arg
ENST00000628528.2:c.1421T>G ENSP00000486374.1:p.Leu474Arg
ENST00000630792.2:c.1397T>G ENSP00000486486.1:p.Leu466Arg
ENST00000631073.2:c.1499T>G ENSP00000486130.1:p.Leu500Arg
NM_001272003.1:c.1421T>G NP_001258932.1:p.Leu474Arg
NM_020822.2:c.1556T>G NP_065873.2:p.Leu519Arg
XM_011518877.1:c.1691T>G XP_011517179.1:p.Leu564Arg
XM_011518878.1:c.1700T>G XP_011517180.1:p.Leu567Arg
XM_011518879.1:c.1691T>G XP_011517181.1:p.Leu564Arg
XM_011518880.1:c.1457T>G XP_011517182.1:p.Leu486Arg
XM_011518881.1:c.1046T>G XP_011517183.1:p.Leu349Arg
XM_011518877.3:c.1691T>G XP_011517179.1:p.Leu564Arg
XM_011518878.3:c.1700T>G XP_011517180.1:p.Leu567Arg
XM_011518879.3:c.1691T>G XP_011517181.1:p.Leu564Arg
XM_011518881.3:c.1046T>G XP_011517183.1:p.Leu349Arg
XM_017014931.1:c.1490T>G XP_016870420.1:p.Leu497Arg
XM_017014932.1:c.1313T>G XP_016870421.1:p.Leu438Arg
XM_017014933.1:c.1046T>G XP_016870422.1:p.Leu349Arg
XM_024447617.1:c.1046T>G XP_024303385.1:p.Leu349Arg
XM_024447618.1:c.1046T>G XP_024303386.1:p.Leu349Arg
NM_020822.3:c.1556T>G MANE Select NP_065873.2:p.Leu519Arg
NM_001272003.2:c.1421T>G NP_001258932.1:p.Leu474Arg