Canonical Allele Identifier: CA1883866669
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765647C= , CM000671.2:g.135765647C= GRCh38
NC_000009.11:g.138657493C= , CM000671.1:g.138657493C= GRCh37
NC_000009.10:g.137797314C= NCBI36
NG_033070.1:g.68463C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1224C= MANE Select ENSP00000360822.2:p.Cys408=
ENST00000674572.1:c.1065C= ENSP00000501742.1:p.Cys355=
ENST00000675090.1:c.972C= ENSP00000501833.1:p.Cys324=
ENST00000675399.1:c.972C= ENSP00000501932.1:p.Cys324=
ENST00000676421.1:c.981C= ENSP00000502322.1:p.Cys327=
ENST00000263604.5:c.1125C= ENSP00000263604.4:p.Cys375=
ENST00000371757.6:c.1224C= ENSP00000360822.2:p.Cys408=
ENST00000460750.5:c.*834C= ENSP00000418777.1:n.*834C=
ENST00000486577.6:c.1107C= ENSP00000417578.3:p.Cys369=
ENST00000487664.5:c.1224C= ENSP00000417851.2:p.Cys408=
ENST00000488444.6:c.1167C= ENSP00000419007.3:p.Cys389=
ENST00000490355.6:c.1167C= ENSP00000418003.3:p.Cys389=
ENST00000490363.3:n.1043C=
ENST00000491806.6:c.1167C= ENSP00000419086.3:p.Cys389=
ENST00000628528.2:c.1089C= ENSP00000486374.1:p.Cys363=
ENST00000630792.2:c.1065C= ENSP00000486486.1:p.Cys355=
ENST00000631073.2:c.1167C= ENSP00000486130.1:p.Cys389=
NM_001272003.1:c.1089C= NP_001258932.1:p.Cys363=
NM_020822.2:c.1224C= NP_065873.2:p.Cys408=
XM_011518877.1:c.1359C= XP_011517179.1:p.Cys453=
XM_011518878.1:c.1368C= XP_011517180.1:p.Cys456=
XM_011518879.1:c.1359C= XP_011517181.1:p.Cys453=
XM_011518880.1:c.1125C= XP_011517182.1:p.Cys375=
XM_011518881.1:c.714C= XP_011517183.1:p.Cys238=
XM_011518877.3:c.1359C= XP_011517179.1:p.Cys453=
XM_011518878.3:c.1368C= XP_011517180.1:p.Cys456=
XM_011518879.3:c.1359C= XP_011517181.1:p.Cys453=
XM_011518881.3:c.714C= XP_011517183.1:p.Cys238=
XM_017014931.1:c.1158C= XP_016870420.1:p.Cys386=
XM_017014932.1:c.981C= XP_016870421.1:p.Cys327=
XM_017014933.1:c.714C= XP_016870422.1:p.Cys238=
XM_024447617.1:c.714C= XP_024303385.1:p.Cys238=
XM_024447618.1:c.714C= XP_024303386.1:p.Cys238=
NM_020822.3:c.1224C= MANE Select NP_065873.2:p.Cys408=
NM_001272003.2:c.1089C= NP_001258932.1:p.Cys363=