Canonical Allele Identifier: CA16618797
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421258
ClinVar RCV Id: RCV000485871
dbSNP Id: rs1064795013

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135775344A>T , CM000671.2:g.135775344A>T GRCh38
NC_000009.11:g.138667190A>T , CM000671.1:g.138667190A>T GRCh37
NC_000009.10:g.137807011A>T NCBI36
NG_033070.1:g.78160A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.2278A>T MANE Select ENSP00000360822.2:p.Ile760Phe
ENST00000674572.1:c.2119A>T ENSP00000501742.1:p.Ile707Phe
ENST00000675090.1:c.2026A>T ENSP00000501833.1:p.Ile676Phe
ENST00000675399.1:c.2026A>T ENSP00000501932.1:p.Ile676Phe
ENST00000676421.1:c.2035A>T ENSP00000502322.1:p.Ile679Phe
ENST00000263604.5:c.2179A>T ENSP00000263604.4:p.Ile727Phe
ENST00000371757.6:c.2278A>T ENSP00000360822.2:p.Ile760Phe
ENST00000460750.5:c.*1888A>T ENSP00000418777.1:n.*1888A>T
ENST00000486577.6:c.2161A>T ENSP00000417578.3:p.Ile721Phe
ENST00000487664.5:c.2278A>T ENSP00000417851.2:p.Ile760Phe
ENST00000488444.6:c.2221A>T ENSP00000419007.3:p.Ile741Phe
ENST00000490355.6:c.2215A>T ENSP00000418003.3:p.Ile739Phe
ENST00000490363.3:n.2097A>T
ENST00000491806.6:c.2221A>T ENSP00000419086.3:p.Ile741Phe
ENST00000628528.2:c.2143A>T ENSP00000486374.1:p.Ile715Phe
ENST00000630792.2:c.2113A>T ENSP00000486486.1:p.Ile705Phe
ENST00000631073.2:c.2221A>T ENSP00000486130.1:p.Ile741Phe
ENST00000631193.1:c.127A>T ENSP00000486830.1:p.Ile43Phe
NM_001272003.1:c.2143A>T NP_001258932.1:p.Ile715Phe
NM_020822.2:c.2278A>T NP_065873.2:p.Ile760Phe
XM_011518877.1:c.2413A>T XP_011517179.1:p.Ile805Phe
XM_011518878.1:c.2422A>T XP_011517180.1:p.Ile808Phe
XM_011518879.1:c.2413A>T XP_011517181.1:p.Ile805Phe
XM_011518880.1:c.2179A>T XP_011517182.1:p.Ile727Phe
XM_011518881.1:c.1768A>T XP_011517183.1:p.Ile590Phe
XM_011518877.3:c.2413A>T XP_011517179.1:p.Ile805Phe
XM_011518878.3:c.2422A>T XP_011517180.1:p.Ile808Phe
XM_011518879.3:c.2413A>T XP_011517181.1:p.Ile805Phe
XM_011518881.3:c.1768A>T XP_011517183.1:p.Ile590Phe
XM_017014931.1:c.2212A>T XP_016870420.1:p.Ile738Phe
XM_017014932.1:c.2035A>T XP_016870421.1:p.Ile679Phe
XM_017014933.1:c.1768A>T XP_016870422.1:p.Ile590Phe
XM_024447617.1:c.1768A>T XP_024303385.1:p.Ile590Phe
XM_024447618.1:c.1768A>T XP_024303386.1:p.Ile590Phe
NM_020822.3:c.2278A>T MANE Select NP_065873.2:p.Ile760Phe
NM_001272003.2:c.2143A>T NP_001258932.1:p.Ile715Phe