Canonical Allele Identifier: CA1883873890
Community Standard Title: NM_020822.3(KCNT1):c.2729G= (p.Arg910=)
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135778822G= , CM000671.2:g.135778822G= GRCh38
NC_000009.11:g.138670668G= , CM000671.1:g.138670668G= GRCh37
NC_000009.10:g.137810489G= NCBI36
NG_033070.1:g.81638G=

Transcript Alleles

HGVS Amino-acid Change
NM_020822.3:c.2729G= MANE Select NP_065873.2:p.Arg910=
ENST00000371757.7:c.2729G= MANE Select ENSP00000360822.2:p.Arg910=
NM_001272003.1:c.2594G= NP_001258932.1:p.Arg865=
NM_001272003.2:c.2594G= NP_001258932.1:p.Arg865=
NM_020822.2:c.2729G= NP_065873.2:p.Arg910=
ENST00000263604.5:c.2630G= ENSP00000263604.4:p.Arg877=
ENST00000371757.6:c.2729G= ENSP00000360822.2:p.Arg910=
ENST00000460750.5:c.*2339G= ENSP00000418777.1:n.*2339G=
ENST00000486577.6:c.2612G= ENSP00000417578.3:p.Arg871=
ENST00000487664.5:c.2729G= ENSP00000417851.2:p.Arg910=
ENST00000488444.6:c.2672G= ENSP00000419007.3:p.Arg891=
ENST00000490355.6:c.2666G= ENSP00000418003.3:p.Arg889=
ENST00000490363.3:n.2548G=
ENST00000491806.6:c.2672G= ENSP00000419086.3:p.Arg891=
ENST00000628528.2:c.2594G= ENSP00000486374.1:p.Arg865=
ENST00000630792.2:c.2564G= ENSP00000486486.1:p.Arg855=
ENST00000631073.2:c.2672G= ENSP00000486130.1:p.Arg891=
ENST00000631193.1:c.595G= ENSP00000486830.1:n.595G=
ENST00000674572.1:c.2570G= ENSP00000501742.1:p.Arg857=
ENST00000675090.1:c.2477G= ENSP00000501833.1:p.Arg826=
ENST00000675102.1:n.1263G=
ENST00000675399.1:c.2477G= ENSP00000501932.1:p.Arg826=
ENST00000676421.1:c.2486G= ENSP00000502322.1:p.Arg829=
XM_011518877.1:c.2864G= XP_011517179.1:p.Arg955=
XM_011518877.3:c.2864G= XP_011517179.1:p.Arg955=
XM_011518878.1:c.2873G= XP_011517180.1:p.Arg958=
XM_011518878.3:c.2873G= XP_011517180.1:p.Arg958=
XM_011518879.1:c.2864G= XP_011517181.1:p.Arg955=
XM_011518879.3:c.2864G= XP_011517181.1:p.Arg955=
XM_011518880.1:c.2630G= XP_011517182.1:p.Arg877=
XM_011518881.1:c.2219G= XP_011517183.1:p.Arg740=
XM_011518881.3:c.2219G= XP_011517183.1:p.Arg740=
XM_017014931.1:c.2663G= XP_016870420.1:p.Arg888=
XM_017014932.1:c.2486G= XP_016870421.1:p.Arg829=
XM_017014933.1:c.2219G= XP_016870422.1:p.Arg740=
XM_024447617.1:c.2219G= XP_024303385.1:p.Arg740=
XM_024447618.1:c.2219G= XP_024303386.1:p.Arg740=