Canonical Allele Identifier: CA467698805
Gene: KCNT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.138667234C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135775388C>A , CM000671.2:g.135775388C>A GRCh38
NC_000009.11:g.138667234C>A , CM000671.1:g.138667234C>A GRCh37
NC_000009.10:g.137807055C>A NCBI36
NG_033070.1:g.78204C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.2322C>A MANE Select ENSP00000360822.2:p.Ala774=
ENST00000674572.1:c.2163C>A ENSP00000501742.1:p.Ala721=
ENST00000675090.1:c.2070C>A ENSP00000501833.1:p.Ala690=
ENST00000675399.1:c.2070C>A ENSP00000501932.1:p.Ala690=
ENST00000676421.1:c.2079C>A ENSP00000502322.1:p.Ala693=
ENST00000263604.5:c.2223C>A ENSP00000263604.4:p.Ala741=
ENST00000371757.6:c.2322C>A ENSP00000360822.2:p.Ala774=
ENST00000460750.5:c.*1932C>A ENSP00000418777.1:n.*1932C>A
ENST00000486577.6:c.2205C>A ENSP00000417578.3:p.Ala735=
ENST00000487664.5:c.2322C>A ENSP00000417851.2:p.Ala774=
ENST00000488444.6:c.2265C>A ENSP00000419007.3:p.Ala755=
ENST00000490355.6:c.2259C>A ENSP00000418003.3:p.Ala753=
ENST00000490363.3:n.2141C>A
ENST00000491806.6:c.2265C>A ENSP00000419086.3:p.Ala755=
ENST00000628528.2:c.2187C>A ENSP00000486374.1:p.Ala729=
ENST00000630792.2:c.2157C>A ENSP00000486486.1:p.Ala719=
ENST00000631073.2:c.2265C>A ENSP00000486130.1:p.Ala755=
ENST00000631193.1:c.171C>A ENSP00000486830.1:p.Ala57=
NM_001272003.1:c.2187C>A NP_001258932.1:p.Ala729=
NM_020822.2:c.2322C>A NP_065873.2:p.Ala774=
XM_011518877.1:c.2457C>A XP_011517179.1:p.Ala819=
XM_011518878.1:c.2466C>A XP_011517180.1:p.Ala822=
XM_011518879.1:c.2457C>A XP_011517181.1:p.Ala819=
XM_011518880.1:c.2223C>A XP_011517182.1:p.Ala741=
XM_011518881.1:c.1812C>A XP_011517183.1:p.Ala604=
XM_011518877.3:c.2457C>A XP_011517179.1:p.Ala819=
XM_011518878.3:c.2466C>A XP_011517180.1:p.Ala822=
XM_011518879.3:c.2457C>A XP_011517181.1:p.Ala819=
XM_011518881.3:c.1812C>A XP_011517183.1:p.Ala604=
XM_017014931.1:c.2256C>A XP_016870420.1:p.Ala752=
XM_017014932.1:c.2079C>A XP_016870421.1:p.Ala693=
XM_017014933.1:c.1812C>A XP_016870422.1:p.Ala604=
XM_024447617.1:c.1812C>A XP_024303385.1:p.Ala604=
XM_024447618.1:c.1812C>A XP_024303386.1:p.Ala604=
NM_020822.3:c.2322C>A MANE Select NP_065873.2:p.Ala774=
NM_001272003.2:c.2187C>A NP_001258932.1:p.Ala729=