Canonical Allele Identifier: CA5327257
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 412314
dbSNP Id: rs777479133

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135775387C>T , CM000671.2:g.135775387C>T GRCh38
NC_000009.11:g.138667233C>T , CM000671.1:g.138667233C>T GRCh37
NC_000009.10:g.137807054C>T NCBI36
NG_033070.1:g.78203C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.2321C>T MANE Select ENSP00000360822.2:p.Ala774Val
ENST00000674572.1:c.2162C>T ENSP00000501742.1:p.Ala721Val
ENST00000675090.1:c.2069C>T ENSP00000501833.1:p.Ala690Val
ENST00000675399.1:c.2069C>T ENSP00000501932.1:p.Ala690Val
ENST00000676421.1:c.2078C>T ENSP00000502322.1:p.Ala693Val
ENST00000263604.5:c.2222C>T ENSP00000263604.4:p.Ala741Val
ENST00000371757.6:c.2321C>T ENSP00000360822.2:p.Ala774Val
ENST00000460750.5:c.*1931C>T ENSP00000418777.1:n.*1931C>T
ENST00000486577.6:c.2204C>T ENSP00000417578.3:p.Ala735Val
ENST00000487664.5:c.2321C>T ENSP00000417851.2:p.Ala774Val
ENST00000488444.6:c.2264C>T ENSP00000419007.3:p.Ala755Val
ENST00000490355.6:c.2258C>T ENSP00000418003.3:p.Ala753Val
ENST00000490363.3:n.2140C>T
ENST00000491806.6:c.2264C>T ENSP00000419086.3:p.Ala755Val
ENST00000628528.2:c.2186C>T ENSP00000486374.1:p.Ala729Val
ENST00000630792.2:c.2156C>T ENSP00000486486.1:p.Ala719Val
ENST00000631073.2:c.2264C>T ENSP00000486130.1:p.Ala755Val
ENST00000631193.1:c.170C>T ENSP00000486830.1:p.Ala57Val
NM_001272003.1:c.2186C>T NP_001258932.1:p.Ala729Val
NM_020822.2:c.2321C>T NP_065873.2:p.Ala774Val
XM_011518877.1:c.2456C>T XP_011517179.1:p.Ala819Val
XM_011518878.1:c.2465C>T XP_011517180.1:p.Ala822Val
XM_011518879.1:c.2456C>T XP_011517181.1:p.Ala819Val
XM_011518880.1:c.2222C>T XP_011517182.1:p.Ala741Val
XM_011518881.1:c.1811C>T XP_011517183.1:p.Ala604Val
XM_011518877.3:c.2456C>T XP_011517179.1:p.Ala819Val
XM_011518878.3:c.2465C>T XP_011517180.1:p.Ala822Val
XM_011518879.3:c.2456C>T XP_011517181.1:p.Ala819Val
XM_011518881.3:c.1811C>T XP_011517183.1:p.Ala604Val
XM_017014931.1:c.2255C>T XP_016870420.1:p.Ala752Val
XM_017014932.1:c.2078C>T XP_016870421.1:p.Ala693Val
XM_017014933.1:c.1811C>T XP_016870422.1:p.Ala604Val
XM_024447617.1:c.1811C>T XP_024303385.1:p.Ala604Val
XM_024447618.1:c.1811C>T XP_024303386.1:p.Ala604Val
NM_020822.3:c.2321C>T MANE Select NP_065873.2:p.Ala774Val
NM_001272003.2:c.2186C>T NP_001258932.1:p.Ala729Val