Canonical Allele Identifier: CA1883866671
Community Standard Title: NM_020822.3(KCNT1):c.1226C= (p.Pro409=)
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765649C= , CM000671.2:g.135765649C= GRCh38
NC_000009.11:g.138657495C= , CM000671.1:g.138657495C= GRCh37
NC_000009.10:g.137797316C= NCBI36
NG_033070.1:g.68465C=

Transcript Alleles

HGVS Amino-acid Change
NM_020822.3:c.1226C= MANE Select NP_065873.2:p.Pro409=
ENST00000371757.7:c.1226C= MANE Select ENSP00000360822.2:p.Pro409=
NM_001272003.1:c.1091C= NP_001258932.1:p.Pro364=
NM_001272003.2:c.1091C= NP_001258932.1:p.Pro364=
NM_020822.2:c.1226C= NP_065873.2:p.Pro409=
ENST00000263604.5:c.1127C= ENSP00000263604.4:p.Pro376=
ENST00000371757.6:c.1226C= ENSP00000360822.2:p.Pro409=
ENST00000460750.5:c.*836C= ENSP00000418777.1:n.*836C=
ENST00000486577.6:c.1109C= ENSP00000417578.3:p.Pro370=
ENST00000487664.5:c.1226C= ENSP00000417851.2:p.Pro409=
ENST00000488444.6:c.1169C= ENSP00000419007.3:p.Pro390=
ENST00000490355.6:c.1169C= ENSP00000418003.3:p.Pro390=
ENST00000490363.3:n.1045C=
ENST00000491806.6:c.1169C= ENSP00000419086.3:p.Pro390=
ENST00000628528.2:c.1091C= ENSP00000486374.1:p.Pro364=
ENST00000630792.2:c.1067C= ENSP00000486486.1:p.Pro356=
ENST00000631073.2:c.1169C= ENSP00000486130.1:p.Pro390=
ENST00000674572.1:c.1067C= ENSP00000501742.1:p.Pro356=
ENST00000675090.1:c.974C= ENSP00000501833.1:p.Pro325=
ENST00000675399.1:c.974C= ENSP00000501932.1:p.Pro325=
ENST00000676421.1:c.983C= ENSP00000502322.1:p.Pro328=
XM_011518877.1:c.1361C= XP_011517179.1:p.Pro454=
XM_011518877.3:c.1361C= XP_011517179.1:p.Pro454=
XM_011518878.1:c.1370C= XP_011517180.1:p.Pro457=
XM_011518878.3:c.1370C= XP_011517180.1:p.Pro457=
XM_011518879.1:c.1361C= XP_011517181.1:p.Pro454=
XM_011518879.3:c.1361C= XP_011517181.1:p.Pro454=
XM_011518880.1:c.1127C= XP_011517182.1:p.Pro376=
XM_011518881.1:c.716C= XP_011517183.1:p.Pro239=
XM_011518881.3:c.716C= XP_011517183.1:p.Pro239=
XM_017014931.1:c.1160C= XP_016870420.1:p.Pro387=
XM_017014932.1:c.983C= XP_016870421.1:p.Pro328=
XM_017014933.1:c.716C= XP_016870422.1:p.Pro239=
XM_024447617.1:c.716C= XP_024303385.1:p.Pro239=
XM_024447618.1:c.716C= XP_024303386.1:p.Pro239=