Canonical Allele Identifier: CA375512234
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135775348G>T , CM000671.2:g.135775348G>T GRCh38
NC_000009.11:g.138667194G>T , CM000671.1:g.138667194G>T GRCh37
NC_000009.10:g.137807015G>T NCBI36
NG_033070.1:g.78164G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.2282G>T MANE Select ENSP00000360822.2:p.Gly761Val
ENST00000674572.1:c.2123G>T ENSP00000501742.1:p.Gly708Val
ENST00000675090.1:c.2030G>T ENSP00000501833.1:p.Gly677Val
ENST00000675399.1:c.2030G>T ENSP00000501932.1:p.Gly677Val
ENST00000676421.1:c.2039G>T ENSP00000502322.1:p.Gly680Val
ENST00000263604.5:c.2183G>T ENSP00000263604.4:p.Gly728Val
ENST00000371757.6:c.2282G>T ENSP00000360822.2:p.Gly761Val
ENST00000460750.5:c.*1892G>T ENSP00000418777.1:n.*1892G>T
ENST00000486577.6:c.2165G>T ENSP00000417578.3:p.Gly722Val
ENST00000487664.5:c.2282G>T ENSP00000417851.2:p.Gly761Val
ENST00000488444.6:c.2225G>T ENSP00000419007.3:p.Gly742Val
ENST00000490355.6:c.2219G>T ENSP00000418003.3:p.Gly740Val
ENST00000490363.3:n.2101G>T
ENST00000491806.6:c.2225G>T ENSP00000419086.3:p.Gly742Val
ENST00000628528.2:c.2147G>T ENSP00000486374.1:p.Gly716Val
ENST00000630792.2:c.2117G>T ENSP00000486486.1:p.Gly706Val
ENST00000631073.2:c.2225G>T ENSP00000486130.1:p.Gly742Val
ENST00000631193.1:c.131G>T ENSP00000486830.1:p.Gly44Val
NM_001272003.1:c.2147G>T NP_001258932.1:p.Gly716Val
NM_020822.2:c.2282G>T NP_065873.2:p.Gly761Val
XM_011518877.1:c.2417G>T XP_011517179.1:p.Gly806Val
XM_011518878.1:c.2426G>T XP_011517180.1:p.Gly809Val
XM_011518879.1:c.2417G>T XP_011517181.1:p.Gly806Val
XM_011518880.1:c.2183G>T XP_011517182.1:p.Gly728Val
XM_011518881.1:c.1772G>T XP_011517183.1:p.Gly591Val
XM_011518877.3:c.2417G>T XP_011517179.1:p.Gly806Val
XM_011518878.3:c.2426G>T XP_011517180.1:p.Gly809Val
XM_011518879.3:c.2417G>T XP_011517181.1:p.Gly806Val
XM_011518881.3:c.1772G>T XP_011517183.1:p.Gly591Val
XM_017014931.1:c.2216G>T XP_016870420.1:p.Gly739Val
XM_017014932.1:c.2039G>T XP_016870421.1:p.Gly680Val
XM_017014933.1:c.1772G>T XP_016870422.1:p.Gly591Val
XM_024447617.1:c.1772G>T XP_024303385.1:p.Gly591Val
XM_024447618.1:c.1772G>T XP_024303386.1:p.Gly591Val
NM_020822.3:c.2282G>T MANE Select NP_065873.2:p.Gly761Val
NM_001272003.2:c.2147G>T NP_001258932.1:p.Gly716Val