Canonical Allele Identifier: CA375499963
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765073G>A , CM000671.2:g.135765073G>A GRCh38
NC_000009.11:g.138656919G>A , CM000671.1:g.138656919G>A GRCh37
NC_000009.10:g.137796740G>A NCBI36
NG_033070.1:g.67889G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1078G>A MANE Select ENSP00000360822.2:p.Gly360Arg
ENST00000674572.1:c.919G>A ENSP00000501742.1:p.Gly307Arg
ENST00000675090.1:c.826G>A ENSP00000501833.1:p.Gly276Arg
ENST00000675399.1:c.826G>A ENSP00000501932.1:p.Gly276Arg
ENST00000676421.1:c.835G>A ENSP00000502322.1:p.Gly279Arg
ENST00000263604.5:c.979G>A ENSP00000263604.4:p.Gly327Arg
ENST00000371757.6:c.1078G>A ENSP00000360822.2:p.Gly360Arg
ENST00000460750.5:c.*688G>A ENSP00000418777.1:n.*688G>A
ENST00000486577.6:c.961G>A ENSP00000417578.3:p.Gly321Arg
ENST00000487664.5:c.1078G>A ENSP00000417851.2:p.Gly360Arg
ENST00000488444.6:c.1021G>A ENSP00000419007.3:p.Gly341Arg
ENST00000490355.6:c.1021G>A ENSP00000418003.3:p.Gly341Arg
ENST00000490363.3:n.897G>A
ENST00000491806.6:c.1021G>A ENSP00000419086.3:p.Gly341Arg
ENST00000628528.2:c.943G>A ENSP00000486374.1:p.Gly315Arg
ENST00000630792.2:c.919G>A ENSP00000486486.1:p.Gly307Arg
ENST00000631073.2:c.1021G>A ENSP00000486130.1:p.Gly341Arg
NM_001272003.1:c.943G>A NP_001258932.1:p.Gly315Arg
NM_020822.2:c.1078G>A NP_065873.2:p.Gly360Arg
XM_011518877.1:c.1213G>A XP_011517179.1:p.Gly405Arg
XM_011518878.1:c.1222G>A XP_011517180.1:p.Gly408Arg
XM_011518879.1:c.1213G>A XP_011517181.1:p.Gly405Arg
XM_011518880.1:c.979G>A XP_011517182.1:p.Gly327Arg
XM_011518881.1:c.568G>A XP_011517183.1:p.Gly190Arg
XM_011518877.3:c.1213G>A XP_011517179.1:p.Gly405Arg
XM_011518878.3:c.1222G>A XP_011517180.1:p.Gly408Arg
XM_011518879.3:c.1213G>A XP_011517181.1:p.Gly405Arg
XM_011518881.3:c.568G>A XP_011517183.1:p.Gly190Arg
XM_017014931.1:c.1012G>A XP_016870420.1:p.Gly338Arg
XM_017014932.1:c.835G>A XP_016870421.1:p.Gly279Arg
XM_017014933.1:c.568G>A XP_016870422.1:p.Gly190Arg
XM_024447617.1:c.568G>A XP_024303385.1:p.Gly190Arg
XM_024447618.1:c.568G>A XP_024303386.1:p.Gly190Arg
NM_020822.3:c.1078G>A MANE Select NP_065873.2:p.Gly360Arg
NM_001272003.2:c.943G>A NP_001258932.1:p.Gly315Arg