Canonical Allele Identifier: CA5326330
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135714761C>T , CM000671.2:g.135714761C>T GRCh38
NC_000009.11:g.138606607C>T , CM000671.1:g.138606607C>T GRCh37
NC_000009.10:g.137746428C>T NCBI36
NG_033070.1:g.17577C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.254+41C>T MANE Select ENSP00000360822.2:n.254+41C>T
ENST00000674572.1:c.95+41C>T ENSP00000501742.1:n.95+41C>T
ENST00000371757.6:c.254+41C>T ENSP00000360822.2:n.254+41C>T
ENST00000460750.5:c.254+41C>T ENSP00000418777.1:n.254+41C>T
ENST00000473941.5:c.95+41C>T ENSP00000420764.1:n.95+41C>T
ENST00000486577.6:c.95+41C>T ENSP00000417578.3:n.95+41C>T
ENST00000487664.5:c.254+41C>T ENSP00000417851.2:n.254+41C>T
ENST00000628528.2:c.110+12393C>T ENSP00000486374.1:n.110+12393C>T
ENST00000630792.2:c.95+41C>T ENSP00000486486.1:n.95+41C>T
NM_001272003.1:c.110+12393C>T NP_001258932.1:n.110+12393C>T
NM_020822.2:c.254+41C>T NP_065873.2:n.254+41C>T
XM_011518877.1:c.389+41C>T XP_011517179.1:n.389+41C>T
XM_011518878.1:c.389+41C>T XP_011517180.1:n.389+41C>T
XM_011518879.1:c.389+41C>T XP_011517181.1:n.389+41C>T
XM_011518877.3:c.389+41C>T XP_011517179.1:n.389+41C>T
XM_011518878.3:c.389+41C>T XP_011517180.1:n.389+41C>T
XM_011518879.3:c.389+41C>T XP_011517181.1:n.389+41C>T
NM_020822.3:c.254+41C>T MANE Select NP_065873.2:n.254+41C>T
NM_001272003.2:c.110+12393C>T NP_001258932.1:n.110+12393C>T