Canonical Allele Identifier: CA1883884710
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135775329C= , CM000671.2:g.135775329C= GRCh38
NC_000009.11:g.138667175C= , CM000671.1:g.138667175C= GRCh37
NC_000009.10:g.137806996C= NCBI36
NG_033070.1:g.78145C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.2263C= MANE Select ENSP00000360822.2:p.Pro755=
ENST00000674572.1:c.2104C= ENSP00000501742.1:p.Pro702=
ENST00000675090.1:c.2011C= ENSP00000501833.1:p.Pro671=
ENST00000675399.1:c.2011C= ENSP00000501932.1:p.Pro671=
ENST00000676421.1:c.2020C= ENSP00000502322.1:p.Pro674=
ENST00000263604.5:c.2164C= ENSP00000263604.4:p.Pro722=
ENST00000371757.6:c.2263C= ENSP00000360822.2:p.Pro755=
ENST00000460750.5:c.*1873C= ENSP00000418777.1:n.*1873C=
ENST00000486577.6:c.2146C= ENSP00000417578.3:p.Pro716=
ENST00000487664.5:c.2263C= ENSP00000417851.2:p.Pro755=
ENST00000488444.6:c.2206C= ENSP00000419007.3:p.Pro736=
ENST00000490355.6:c.2200C= ENSP00000418003.3:p.Pro734=
ENST00000490363.3:n.2082C=
ENST00000491806.6:c.2206C= ENSP00000419086.3:p.Pro736=
ENST00000628528.2:c.2128C= ENSP00000486374.1:p.Pro710=
ENST00000630792.2:c.2098C= ENSP00000486486.1:p.Pro700=
ENST00000631073.2:c.2206C= ENSP00000486130.1:p.Pro736=
ENST00000631193.1:c.112C= ENSP00000486830.1:p.Pro38=
NM_001272003.1:c.2128C= NP_001258932.1:p.Pro710=
NM_020822.2:c.2263C= NP_065873.2:p.Pro755=
XM_011518877.1:c.2398C= XP_011517179.1:p.Pro800=
XM_011518878.1:c.2407C= XP_011517180.1:p.Pro803=
XM_011518879.1:c.2398C= XP_011517181.1:p.Pro800=
XM_011518880.1:c.2164C= XP_011517182.1:p.Pro722=
XM_011518881.1:c.1753C= XP_011517183.1:p.Pro585=
XM_011518877.3:c.2398C= XP_011517179.1:p.Pro800=
XM_011518878.3:c.2407C= XP_011517180.1:p.Pro803=
XM_011518879.3:c.2398C= XP_011517181.1:p.Pro800=
XM_011518881.3:c.1753C= XP_011517183.1:p.Pro585=
XM_017014931.1:c.2197C= XP_016870420.1:p.Pro733=
XM_017014932.1:c.2020C= XP_016870421.1:p.Pro674=
XM_017014933.1:c.1753C= XP_016870422.1:p.Pro585=
XM_024447617.1:c.1753C= XP_024303385.1:p.Pro585=
XM_024447618.1:c.1753C= XP_024303386.1:p.Pro585=
NM_020822.3:c.2263C= MANE Select NP_065873.2:p.Pro755=
NM_001272003.2:c.2128C= NP_001258932.1:p.Pro710=