Canonical Allele Identifier: CA5326753
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 261360
dbSNP Id: rs112341167

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765016G>A , CM000671.2:g.135765016G>A GRCh38
NC_000009.11:g.138656862G>A , CM000671.1:g.138656862G>A GRCh37
NC_000009.10:g.137796683G>A NCBI36
NG_033070.1:g.67832G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1036-15G>A MANE Select ENSP00000360822.2:p.=
ENST00000674572.1:c.877-15G>A ENSP00000501742.1:p.=
ENST00000675090.1:c.784-15G>A ENSP00000501833.1:p.=
ENST00000675399.1:c.784-15G>A ENSP00000501932.1:p.=
ENST00000676421.1:c.793-15G>A ENSP00000502322.1:p.=
ENST00000263604.5:c.937-15G>A ENSP00000263604.4:p.=
ENST00000371757.6:c.1036-15G>A ENSP00000360822.2:p.=
ENST00000460750.5:c.*646-15G>A ENSP00000418777.1:p.=
ENST00000486577.6:c.919-15G>A ENSP00000417578.3:p.=
ENST00000487664.5:c.1036-15G>A ENSP00000417851.2:p.=
ENST00000488444.6:c.979-15G>A ENSP00000419007.3:p.=
ENST00000490355.6:n.979-15G>A ENSP00000418003.3:p.=
ENST00000490363.3:n.855-15G>A
ENST00000491806.6:c.979-15G>A ENSP00000419086.3:p.=
ENST00000628528.2:c.901-15G>A ENSP00000486374.1:p.=
ENST00000630792.2:n.877-15G>A ENSP00000486486.1:p.=
ENST00000631073.2:c.979-15G>A ENSP00000486130.1:p.=
NM_001272003.1:c.901-15G>A NP_001258932.1:p.=
NM_020822.2:c.1036-15G>A NP_065873.2:p.=
XM_011518877.1:c.1171-15G>A XP_011517179.1:p.=
XM_011518878.1:c.1180-15G>A XP_011517180.1:p.=
XM_011518879.1:c.1171-15G>A XP_011517181.1:p.=
XM_011518880.1:n.937-15G>A XP_011517182.1:p.=
XM_011518881.1:c.526-15G>A XP_011517183.1:p.=
XM_011518877.3:c.1171-15G>A XP_011517179.1:p.=
XM_011518878.3:c.1180-15G>A XP_011517180.1:p.=
XM_011518879.3:c.1171-15G>A XP_011517181.1:p.=
XM_011518881.3:c.526-15G>A XP_011517183.1:p.=
XM_017014931.1:c.970-15G>A XP_016870420.1:p.=
XM_017014932.1:c.793-15G>A XP_016870421.1:p.=
XM_017014933.1:c.526-15G>A XP_016870422.1:p.=
XM_024447617.1:c.526-15G>A XP_024303385.1:p.=
XM_024447618.1:c.526-15G>A XP_024303386.1:p.=
NM_020822.3:c.1036-15G>A MANE Select NP_065873.2:p.=
NM_001272003.2:c.901-15G>A NP_001258932.1:p.=