Canonical Allele Identifier: CA467698139
Gene: KCNT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.138657499G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765653G>T , CM000671.2:g.135765653G>T GRCh38
NC_000009.11:g.138657499G>T , CM000671.1:g.138657499G>T GRCh37
NC_000009.10:g.137797320G>T NCBI36
NG_033070.1:g.68469G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1230G>T MANE Select ENSP00000360822.2:p.Thr410=
ENST00000674572.1:c.1071G>T ENSP00000501742.1:p.Thr357=
ENST00000675090.1:c.978G>T ENSP00000501833.1:p.Thr326=
ENST00000675399.1:c.978G>T ENSP00000501932.1:p.Thr326=
ENST00000676421.1:c.987G>T ENSP00000502322.1:p.Thr329=
ENST00000263604.5:c.1131G>T ENSP00000263604.4:p.Thr377=
ENST00000371757.6:c.1230G>T ENSP00000360822.2:p.Thr410=
ENST00000460750.5:c.*840G>T ENSP00000418777.1:n.*840G>T
ENST00000486577.6:c.1113G>T ENSP00000417578.3:p.Thr371=
ENST00000487664.5:c.1230G>T ENSP00000417851.2:p.Thr410=
ENST00000488444.6:c.1173G>T ENSP00000419007.3:p.Thr391=
ENST00000490355.6:c.1173G>T ENSP00000418003.3:p.Thr391=
ENST00000490363.3:n.1049G>T
ENST00000491806.6:c.1173G>T ENSP00000419086.3:p.Thr391=
ENST00000628528.2:c.1095G>T ENSP00000486374.1:p.Thr365=
ENST00000630792.2:c.1071G>T ENSP00000486486.1:p.Thr357=
ENST00000631073.2:c.1173G>T ENSP00000486130.1:p.Thr391=
NM_001272003.1:c.1095G>T NP_001258932.1:p.Thr365=
NM_020822.2:c.1230G>T NP_065873.2:p.Thr410=
XM_011518877.1:c.1365G>T XP_011517179.1:p.Thr455=
XM_011518878.1:c.1374G>T XP_011517180.1:p.Thr458=
XM_011518879.1:c.1365G>T XP_011517181.1:p.Thr455=
XM_011518880.1:c.1131G>T XP_011517182.1:p.Thr377=
XM_011518881.1:c.720G>T XP_011517183.1:p.Thr240=
XM_011518877.3:c.1365G>T XP_011517179.1:p.Thr455=
XM_011518878.3:c.1374G>T XP_011517180.1:p.Thr458=
XM_011518879.3:c.1365G>T XP_011517181.1:p.Thr455=
XM_011518881.3:c.720G>T XP_011517183.1:p.Thr240=
XM_017014931.1:c.1164G>T XP_016870420.1:p.Thr388=
XM_017014932.1:c.987G>T XP_016870421.1:p.Thr329=
XM_017014933.1:c.720G>T XP_016870422.1:p.Thr240=
XM_024447617.1:c.720G>T XP_024303385.1:p.Thr240=
XM_024447618.1:c.720G>T XP_024303386.1:p.Thr240=
NM_020822.3:c.1230G>T MANE Select NP_065873.2:p.Thr410=
NM_001272003.2:c.1095G>T NP_001258932.1:p.Thr365=