Canonical Allele Identifier: CA354199
Gene: KCNT1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.2729G>A MANE Select ENSP00000360822.2:p.Arg910Gln
ENST00000674572.1:c.2570G>A ENSP00000501742.1:p.Arg857Gln
ENST00000675090.1:c.2477G>A ENSP00000501833.1:p.Arg826Gln
ENST00000675102.1:n.1263G>A
ENST00000675399.1:c.2477G>A ENSP00000501932.1:p.Arg826Gln
ENST00000676421.1:c.2486G>A ENSP00000502322.1:p.Arg829Gln
ENST00000263604.5:c.2630G>A ENSP00000263604.4:p.Arg877Gln
ENST00000371757.6:c.2729G>A ENSP00000360822.2:p.Arg910Gln
ENST00000460750.5:c.*2339G>A ENSP00000418777.1:n.*2339G>A
ENST00000486577.6:c.2612G>A ENSP00000417578.3:p.Arg871Gln
ENST00000487664.5:c.2729G>A ENSP00000417851.2:p.Arg910Gln
ENST00000488444.6:c.2672G>A ENSP00000419007.3:p.Arg891Gln
ENST00000490355.6:c.2666G>A ENSP00000418003.3:p.Arg889Gln
ENST00000490363.3:n.2548G>A
ENST00000491806.6:c.2672G>A ENSP00000419086.3:p.Arg891Gln
ENST00000628528.2:c.2594G>A ENSP00000486374.1:p.Arg865Gln
ENST00000630792.2:c.2564G>A ENSP00000486486.1:p.Arg855Gln
ENST00000631073.2:c.2672G>A ENSP00000486130.1:p.Arg891Gln
ENST00000631193.1:c.595G>A ENSP00000486830.1:n.595G>A
NM_001272003.1:c.2594G>A NP_001258932.1:p.Arg865Gln
NM_020822.2:c.2729G>A NP_065873.2:p.Arg910Gln
XM_011518877.1:c.2864G>A XP_011517179.1:p.Arg955Gln
XM_011518878.1:c.2873G>A XP_011517180.1:p.Arg958Gln
XM_011518879.1:c.2864G>A XP_011517181.1:p.Arg955Gln
XM_011518880.1:c.2630G>A XP_011517182.1:p.Arg877Gln
XM_011518881.1:c.2219G>A XP_011517183.1:p.Arg740Gln
XM_011518877.3:c.2864G>A XP_011517179.1:p.Arg955Gln
XM_011518878.3:c.2873G>A XP_011517180.1:p.Arg958Gln
XM_011518879.3:c.2864G>A XP_011517181.1:p.Arg955Gln
XM_011518881.3:c.2219G>A XP_011517183.1:p.Arg740Gln
XM_017014931.1:c.2663G>A XP_016870420.1:p.Arg888Gln
XM_017014932.1:c.2486G>A XP_016870421.1:p.Arg829Gln
XM_017014933.1:c.2219G>A XP_016870422.1:p.Arg740Gln
XM_024447617.1:c.2219G>A XP_024303385.1:p.Arg740Gln
XM_024447618.1:c.2219G>A XP_024303386.1:p.Arg740Gln
NM_020822.3:c.2729G>A MANE Select NP_065873.2:p.Arg910Gln
NM_001272003.2:c.2594G>A NP_001258932.1:p.Arg865Gln