Canonical Allele Identifier: CA375494826
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135750159A>G , CM000671.2:g.135750159A>G GRCh38
NC_000009.11:g.138642005A>G , CM000671.1:g.138642005A>G GRCh37
NC_000009.10:g.137781826A>G NCBI36
NG_033070.1:g.52975A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.316A>G MANE Select ENSP00000360822.2:p.Ile106Val
ENST00000637018.1:n.121A>G
ENST00000638123.1:n.51A>G
ENST00000674572.1:c.157A>G ENSP00000501742.1:p.Ile53Val
ENST00000675090.1:c.64A>G ENSP00000501833.1:p.Ile22Val
ENST00000675399.1:c.64A>G ENSP00000501932.1:p.Ile22Val
ENST00000676421.1:c.64A>G ENSP00000502322.1:p.Ile22Val
ENST00000263604.5:c.217A>G ENSP00000263604.4:p.Ile73Val
ENST00000371757.6:c.316A>G ENSP00000360822.2:p.Ile106Val
ENST00000460750.5:c.316A>G ENSP00000418777.1:p.Ile106Val
ENST00000473941.5:c.157A>G ENSP00000420764.1:p.Ile53Val
ENST00000486577.6:c.199A>G ENSP00000417578.3:p.Ile67Val
ENST00000487664.5:c.316A>G ENSP00000417851.2:p.Ile106Val
ENST00000488444.6:c.259A>G ENSP00000419007.3:p.Ile87Val
ENST00000490355.6:c.259A>G ENSP00000418003.3:p.Ile87Val
ENST00000491806.6:c.259A>G ENSP00000419086.3:p.Ile87Val
ENST00000628528.2:c.172A>G ENSP00000486374.1:p.Ile58Val
ENST00000630792.2:c.157A>G ENSP00000486486.1:p.Ile53Val
ENST00000631073.2:c.259A>G ENSP00000486130.1:p.Ile87Val
NM_001272003.1:c.172A>G NP_001258932.1:p.Ile58Val
NM_020822.2:c.316A>G NP_065873.2:p.Ile106Val
XM_011518877.1:c.451A>G XP_011517179.1:p.Ile151Val
XM_011518878.1:c.451A>G XP_011517180.1:p.Ile151Val
XM_011518879.1:c.451A>G XP_011517181.1:p.Ile151Val
XM_011518880.1:c.217A>G XP_011517182.1:p.Ile73Val
XM_011518877.3:c.451A>G XP_011517179.1:p.Ile151Val
XM_011518878.3:c.451A>G XP_011517180.1:p.Ile151Val
XM_011518879.3:c.451A>G XP_011517181.1:p.Ile151Val
XM_017014931.1:c.341A>G XP_016870420.1:p.His114Arg
XM_017014932.1:c.64A>G XP_016870421.1:p.Ile22Val
XM_017014933.1:c.-104A>G XP_016870422.1:n.-104A>G
XM_024447617.1:c.-204A>G XP_024303385.1:n.-204A>G
XM_024447618.1:c.-204A>G XP_024303386.1:n.-204A>G
NM_020822.3:c.316A>G MANE Select NP_065873.2:p.Ile106Val
NM_001272003.2:c.172A>G NP_001258932.1:p.Ile58Val