Canonical Allele Identifier: CA1883872604
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135770046C= , CM000671.2:g.135770046C= GRCh38
NC_000009.11:g.138661892C= , CM000671.1:g.138661892C= GRCh37
NC_000009.10:g.137801713C= NCBI36
NG_033070.1:g.72862C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1610C= MANE Select ENSP00000360822.2:p.Ser537=
ENST00000674572.1:c.1451C= ENSP00000501742.1:p.Ser484=
ENST00000675090.1:c.1358C= ENSP00000501833.1:p.Ser453=
ENST00000675399.1:c.1358C= ENSP00000501932.1:p.Ser453=
ENST00000676421.1:c.1367C= ENSP00000502322.1:p.Ser456=
ENST00000263604.5:c.1511C= ENSP00000263604.4:p.Ser504=
ENST00000371757.6:c.1610C= ENSP00000360822.2:p.Ser537=
ENST00000460750.5:c.*1220C= ENSP00000418777.1:n.*1220C=
ENST00000486577.6:c.1493C= ENSP00000417578.3:p.Ser498=
ENST00000487664.5:c.1610C= ENSP00000417851.2:p.Ser537=
ENST00000488444.6:c.1553C= ENSP00000419007.3:p.Ser518=
ENST00000490355.6:c.1553C= ENSP00000418003.3:p.Ser518=
ENST00000490363.3:n.1429C=
ENST00000491806.6:c.1553C= ENSP00000419086.3:p.Ser518=
ENST00000628528.2:c.1475C= ENSP00000486374.1:p.Ser492=
ENST00000630792.2:c.1451C= ENSP00000486486.1:p.Ser484=
ENST00000631073.2:c.1553C= ENSP00000486130.1:p.Ser518=
NM_001272003.1:c.1475C= NP_001258932.1:p.Ser492=
NM_020822.2:c.1610C= NP_065873.2:p.Ser537=
XM_011518877.1:c.1745C= XP_011517179.1:p.Ser582=
XM_011518878.1:c.1754C= XP_011517180.1:p.Ser585=
XM_011518879.1:c.1745C= XP_011517181.1:p.Ser582=
XM_011518880.1:c.1511C= XP_011517182.1:p.Ser504=
XM_011518881.1:c.1100C= XP_011517183.1:p.Ser367=
XM_011518877.3:c.1745C= XP_011517179.1:p.Ser582=
XM_011518878.3:c.1754C= XP_011517180.1:p.Ser585=
XM_011518879.3:c.1745C= XP_011517181.1:p.Ser582=
XM_011518881.3:c.1100C= XP_011517183.1:p.Ser367=
XM_017014931.1:c.1544C= XP_016870420.1:p.Ser515=
XM_017014932.1:c.1367C= XP_016870421.1:p.Ser456=
XM_017014933.1:c.1100C= XP_016870422.1:p.Ser367=
XM_024447617.1:c.1100C= XP_024303385.1:p.Ser367=
XM_024447618.1:c.1100C= XP_024303386.1:p.Ser367=
NM_020822.3:c.1610C= MANE Select NP_065873.2:p.Ser537=
NM_001272003.2:c.1475C= NP_001258932.1:p.Ser492=