Canonical Allele Identifier: CA467698173
Gene: KCNT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.138657553G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765707G>T , CM000671.2:g.135765707G>T GRCh38
NC_000009.11:g.138657553G>T , CM000671.1:g.138657553G>T GRCh37
NC_000009.10:g.137797374G>T NCBI36
NG_033070.1:g.68523G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1284G>T MANE Select ENSP00000360822.2:p.Arg428=
ENST00000636995.1:n.11G>T
ENST00000637798.1:n.23G>T
ENST00000674572.1:c.1125G>T ENSP00000501742.1:p.Arg375=
ENST00000675090.1:c.1032G>T ENSP00000501833.1:p.Arg344=
ENST00000675399.1:c.1032G>T ENSP00000501932.1:p.Arg344=
ENST00000676421.1:c.1041G>T ENSP00000502322.1:p.Arg347=
ENST00000263604.5:c.1185G>T ENSP00000263604.4:p.Arg395=
ENST00000371757.6:c.1284G>T ENSP00000360822.2:p.Arg428=
ENST00000460750.5:c.*894G>T ENSP00000418777.1:n.*894G>T
ENST00000486577.6:c.1167G>T ENSP00000417578.3:p.Arg389=
ENST00000487664.5:c.1284G>T ENSP00000417851.2:p.Arg428=
ENST00000488444.6:c.1227G>T ENSP00000419007.3:p.Arg409=
ENST00000490355.6:c.1227G>T ENSP00000418003.3:p.Arg409=
ENST00000490363.3:n.1103G>T
ENST00000491806.6:c.1227G>T ENSP00000419086.3:p.Arg409=
ENST00000628528.2:c.1149G>T ENSP00000486374.1:p.Arg383=
ENST00000630792.2:c.1125G>T ENSP00000486486.1:p.Arg375=
ENST00000631073.2:c.1227G>T ENSP00000486130.1:p.Arg409=
NM_001272003.1:c.1149G>T NP_001258932.1:p.Arg383=
NM_020822.2:c.1284G>T NP_065873.2:p.Arg428=
XM_011518877.1:c.1419G>T XP_011517179.1:p.Arg473=
XM_011518878.1:c.1428G>T XP_011517180.1:p.Arg476=
XM_011518879.1:c.1419G>T XP_011517181.1:p.Arg473=
XM_011518880.1:c.1185G>T XP_011517182.1:p.Arg395=
XM_011518881.1:c.774G>T XP_011517183.1:p.Arg258=
XM_011518877.3:c.1419G>T XP_011517179.1:p.Arg473=
XM_011518878.3:c.1428G>T XP_011517180.1:p.Arg476=
XM_011518879.3:c.1419G>T XP_011517181.1:p.Arg473=
XM_011518881.3:c.774G>T XP_011517183.1:p.Arg258=
XM_017014931.1:c.1218G>T XP_016870420.1:p.Arg406=
XM_017014932.1:c.1041G>T XP_016870421.1:p.Arg347=
XM_017014933.1:c.774G>T XP_016870422.1:p.Arg258=
XM_024447617.1:c.774G>T XP_024303385.1:p.Arg258=
XM_024447618.1:c.774G>T XP_024303386.1:p.Arg258=
NM_020822.3:c.1284G>T MANE Select NP_065873.2:p.Arg428=
NM_001272003.2:c.1149G>T NP_001258932.1:p.Arg383=