Canonical Allele Identifier: CA375499966
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765074G>A , CM000671.2:g.135765074G>A GRCh38
NC_000009.11:g.138656920G>A , CM000671.1:g.138656920G>A GRCh37
NC_000009.10:g.137796741G>A NCBI36
NG_033070.1:g.67890G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1079G>A MANE Select ENSP00000360822.2:p.Gly360Glu
ENST00000674572.1:c.920G>A ENSP00000501742.1:p.Gly307Glu
ENST00000675090.1:c.827G>A ENSP00000501833.1:p.Gly276Glu
ENST00000675399.1:c.827G>A ENSP00000501932.1:p.Gly276Glu
ENST00000676421.1:c.836G>A ENSP00000502322.1:p.Gly279Glu
ENST00000263604.5:c.980G>A ENSP00000263604.4:p.Gly327Glu
ENST00000371757.6:c.1079G>A ENSP00000360822.2:p.Gly360Glu
ENST00000460750.5:c.*689G>A ENSP00000418777.1:n.*689G>A
ENST00000486577.6:c.962G>A ENSP00000417578.3:p.Gly321Glu
ENST00000487664.5:c.1079G>A ENSP00000417851.2:p.Gly360Glu
ENST00000488444.6:c.1022G>A ENSP00000419007.3:p.Gly341Glu
ENST00000490355.6:c.1022G>A ENSP00000418003.3:p.Gly341Glu
ENST00000490363.3:n.898G>A
ENST00000491806.6:c.1022G>A ENSP00000419086.3:p.Gly341Glu
ENST00000628528.2:c.944G>A ENSP00000486374.1:p.Gly315Glu
ENST00000630792.2:c.920G>A ENSP00000486486.1:p.Gly307Glu
ENST00000631073.2:c.1022G>A ENSP00000486130.1:p.Gly341Glu
NM_001272003.1:c.944G>A NP_001258932.1:p.Gly315Glu
NM_020822.2:c.1079G>A NP_065873.2:p.Gly360Glu
XM_011518877.1:c.1214G>A XP_011517179.1:p.Gly405Glu
XM_011518878.1:c.1223G>A XP_011517180.1:p.Gly408Glu
XM_011518879.1:c.1214G>A XP_011517181.1:p.Gly405Glu
XM_011518880.1:c.980G>A XP_011517182.1:p.Gly327Glu
XM_011518881.1:c.569G>A XP_011517183.1:p.Gly190Glu
XM_011518877.3:c.1214G>A XP_011517179.1:p.Gly405Glu
XM_011518878.3:c.1223G>A XP_011517180.1:p.Gly408Glu
XM_011518879.3:c.1214G>A XP_011517181.1:p.Gly405Glu
XM_011518881.3:c.569G>A XP_011517183.1:p.Gly190Glu
XM_017014931.1:c.1013G>A XP_016870420.1:p.Gly338Glu
XM_017014932.1:c.836G>A XP_016870421.1:p.Gly279Glu
XM_017014933.1:c.569G>A XP_016870422.1:p.Gly190Glu
XM_024447617.1:c.569G>A XP_024303385.1:p.Gly190Glu
XM_024447618.1:c.569G>A XP_024303386.1:p.Gly190Glu
NM_020822.3:c.1079G>A MANE Select NP_065873.2:p.Gly360Glu
NM_001272003.2:c.944G>A NP_001258932.1:p.Gly315Glu