Canonical Allele Identifier: CA5326358
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135750122C>T , CM000671.2:g.135750122C>T GRCh38
NC_000009.11:g.138641968C>T , CM000671.1:g.138641968C>T GRCh37
NC_000009.10:g.137781789C>T NCBI36
NG_033070.1:g.52938C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.279C>T MANE Select ENSP00000360822.2:p.Asn93=
ENST00000637018.1:n.84C>T
ENST00000638123.1:n.14C>T
ENST00000674572.1:c.120C>T ENSP00000501742.1:p.Asn40=
ENST00000675090.1:c.27C>T ENSP00000501833.1:p.Asn9=
ENST00000675399.1:c.27C>T ENSP00000501932.1:p.Asn9=
ENST00000676421.1:c.27C>T ENSP00000502322.1:p.Asn9=
ENST00000263604.5:c.180C>T ENSP00000263604.4:p.Asn60=
ENST00000371757.6:c.279C>T ENSP00000360822.2:p.Asn93=
ENST00000460750.5:c.279C>T ENSP00000418777.1:p.Asn93=
ENST00000473941.5:c.120C>T ENSP00000420764.1:p.Asn40=
ENST00000486577.6:c.162C>T ENSP00000417578.3:p.Asn54=
ENST00000487664.5:c.279C>T ENSP00000417851.2:p.Asn93=
ENST00000488444.6:c.222C>T ENSP00000419007.3:p.Asn74=
ENST00000490355.6:c.222C>T ENSP00000418003.3:p.Asn74=
ENST00000491806.6:c.222C>T ENSP00000419086.3:p.Asn74=
ENST00000628528.2:c.135C>T ENSP00000486374.1:p.Asn45=
ENST00000630792.2:c.120C>T ENSP00000486486.1:p.Asn40=
ENST00000631073.2:c.222C>T ENSP00000486130.1:p.Asn74=
NM_001272003.1:c.135C>T NP_001258932.1:p.Asn45=
NM_020822.2:c.279C>T NP_065873.2:p.Asn93=
XM_011518877.1:c.414C>T XP_011517179.1:p.Asn138=
XM_011518878.1:c.414C>T XP_011517180.1:p.Asn138=
XM_011518879.1:c.414C>T XP_011517181.1:p.Asn138=
XM_011518880.1:c.180C>T XP_011517182.1:p.Asn60=
XM_011518877.3:c.414C>T XP_011517179.1:p.Asn138=
XM_011518878.3:c.414C>T XP_011517180.1:p.Asn138=
XM_011518879.3:c.414C>T XP_011517181.1:p.Asn138=
XM_017014931.1:c.304C>T XP_016870420.1:p.Arg102Ter
XM_017014932.1:c.27C>T XP_016870421.1:p.Asn9=
XM_017014933.1:c.-141C>T XP_016870422.1:n.-141C>T
XM_024447617.1:c.-241C>T XP_024303385.1:n.-241C>T
XM_024447618.1:c.-241C>T XP_024303386.1:n.-241C>T
NM_020822.3:c.279C>T MANE Select NP_065873.2:p.Asn93=
NM_001272003.2:c.135C>T NP_001258932.1:p.Asn45=