Canonical Allele Identifier: CA467698833
Gene: KCNT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.138667252G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135775406G>T , CM000671.2:g.135775406G>T GRCh38
NC_000009.11:g.138667252G>T , CM000671.1:g.138667252G>T GRCh37
NC_000009.10:g.137807073G>T NCBI36
NG_033070.1:g.78222G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.2340G>T MANE Select ENSP00000360822.2:p.Arg780=
ENST00000674572.1:c.2181G>T ENSP00000501742.1:p.Arg727=
ENST00000675090.1:c.2088G>T ENSP00000501833.1:p.Arg696=
ENST00000675399.1:c.2088G>T ENSP00000501932.1:p.Arg696=
ENST00000676421.1:c.2097G>T ENSP00000502322.1:p.Arg699=
ENST00000263604.5:c.2241G>T ENSP00000263604.4:p.Arg747=
ENST00000371757.6:c.2340G>T ENSP00000360822.2:p.Arg780=
ENST00000460750.5:c.*1950G>T ENSP00000418777.1:n.*1950G>T
ENST00000486577.6:c.2223G>T ENSP00000417578.3:p.Arg741=
ENST00000487664.5:c.2340G>T ENSP00000417851.2:p.Arg780=
ENST00000488444.6:c.2283G>T ENSP00000419007.3:p.Arg761=
ENST00000490355.6:c.2277G>T ENSP00000418003.3:p.Arg759=
ENST00000490363.3:n.2159G>T
ENST00000491806.6:c.2283G>T ENSP00000419086.3:p.Arg761=
ENST00000628528.2:c.2205G>T ENSP00000486374.1:p.Arg735=
ENST00000630792.2:c.2175G>T ENSP00000486486.1:p.Arg725=
ENST00000631073.2:c.2283G>T ENSP00000486130.1:p.Arg761=
ENST00000631193.1:c.189G>T ENSP00000486830.1:p.Arg63=
NM_001272003.1:c.2205G>T NP_001258932.1:p.Arg735=
NM_020822.2:c.2340G>T NP_065873.2:p.Arg780=
XM_011518877.1:c.2475G>T XP_011517179.1:p.Arg825=
XM_011518878.1:c.2484G>T XP_011517180.1:p.Arg828=
XM_011518879.1:c.2475G>T XP_011517181.1:p.Arg825=
XM_011518880.1:c.2241G>T XP_011517182.1:p.Arg747=
XM_011518881.1:c.1830G>T XP_011517183.1:p.Arg610=
XM_011518877.3:c.2475G>T XP_011517179.1:p.Arg825=
XM_011518878.3:c.2484G>T XP_011517180.1:p.Arg828=
XM_011518879.3:c.2475G>T XP_011517181.1:p.Arg825=
XM_011518881.3:c.1830G>T XP_011517183.1:p.Arg610=
XM_017014931.1:c.2274G>T XP_016870420.1:p.Arg758=
XM_017014932.1:c.2097G>T XP_016870421.1:p.Arg699=
XM_017014933.1:c.1830G>T XP_016870422.1:p.Arg610=
XM_024447617.1:c.1830G>T XP_024303385.1:p.Arg610=
XM_024447618.1:c.1830G>T XP_024303386.1:p.Arg610=
NM_020822.3:c.2340G>T MANE Select NP_065873.2:p.Arg780=
NM_001272003.2:c.2205G>T NP_001258932.1:p.Arg735=