Canonical Allele Identifier: CA375505959
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135770006C>A , CM000671.2:g.135770006C>A GRCh38
NC_000009.11:g.138661852C>A , CM000671.1:g.138661852C>A GRCh37
NC_000009.10:g.137801673C>A NCBI36
NG_033070.1:g.72822C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1570C>A MANE Select ENSP00000360822.2:p.Pro524Thr
ENST00000674572.1:c.1411C>A ENSP00000501742.1:p.Pro471Thr
ENST00000675090.1:c.1318C>A ENSP00000501833.1:p.Pro440Thr
ENST00000675399.1:c.1318C>A ENSP00000501932.1:p.Pro440Thr
ENST00000676421.1:c.1327C>A ENSP00000502322.1:p.Pro443Thr
ENST00000263604.5:c.1471C>A ENSP00000263604.4:p.Pro491Thr
ENST00000371757.6:c.1570C>A ENSP00000360822.2:p.Pro524Thr
ENST00000460750.5:c.*1180C>A ENSP00000418777.1:n.*1180C>A
ENST00000486577.6:c.1453C>A ENSP00000417578.3:p.Pro485Thr
ENST00000487664.5:c.1570C>A ENSP00000417851.2:p.Pro524Thr
ENST00000488444.6:c.1513C>A ENSP00000419007.3:p.Pro505Thr
ENST00000490355.6:c.1513C>A ENSP00000418003.3:p.Pro505Thr
ENST00000490363.3:n.1389C>A
ENST00000491806.6:c.1513C>A ENSP00000419086.3:p.Pro505Thr
ENST00000628528.2:c.1435C>A ENSP00000486374.1:p.Pro479Thr
ENST00000630792.2:c.1411C>A ENSP00000486486.1:p.Pro471Thr
ENST00000631073.2:c.1513C>A ENSP00000486130.1:p.Pro505Thr
NM_001272003.1:c.1435C>A NP_001258932.1:p.Pro479Thr
NM_020822.2:c.1570C>A NP_065873.2:p.Pro524Thr
XM_011518877.1:c.1705C>A XP_011517179.1:p.Pro569Thr
XM_011518878.1:c.1714C>A XP_011517180.1:p.Pro572Thr
XM_011518879.1:c.1705C>A XP_011517181.1:p.Pro569Thr
XM_011518880.1:c.1471C>A XP_011517182.1:p.Pro491Thr
XM_011518881.1:c.1060C>A XP_011517183.1:p.Pro354Thr
XM_011518877.3:c.1705C>A XP_011517179.1:p.Pro569Thr
XM_011518878.3:c.1714C>A XP_011517180.1:p.Pro572Thr
XM_011518879.3:c.1705C>A XP_011517181.1:p.Pro569Thr
XM_011518881.3:c.1060C>A XP_011517183.1:p.Pro354Thr
XM_017014931.1:c.1504C>A XP_016870420.1:p.Pro502Thr
XM_017014932.1:c.1327C>A XP_016870421.1:p.Pro443Thr
XM_017014933.1:c.1060C>A XP_016870422.1:p.Pro354Thr
XM_024447617.1:c.1060C>A XP_024303385.1:p.Pro354Thr
XM_024447618.1:c.1060C>A XP_024303386.1:p.Pro354Thr
NM_020822.3:c.1570C>A MANE Select NP_065873.2:p.Pro524Thr
NM_001272003.2:c.1435C>A NP_001258932.1:p.Pro479Thr