Canonical Allele Identifier: CA375501433
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765687A>G , CM000671.2:g.135765687A>G GRCh38
NC_000009.11:g.138657533A>G , CM000671.1:g.138657533A>G GRCh37
NC_000009.10:g.137797354A>G NCBI36
NG_033070.1:g.68503A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1264A>G MANE Select ENSP00000360822.2:p.Ile422Val
ENST00000637798.1:n.3A>G
ENST00000674572.1:c.1105A>G ENSP00000501742.1:p.Ile369Val
ENST00000675090.1:c.1012A>G ENSP00000501833.1:p.Ile338Val
ENST00000675399.1:c.1012A>G ENSP00000501932.1:p.Ile338Val
ENST00000676421.1:c.1021A>G ENSP00000502322.1:p.Ile341Val
ENST00000263604.5:c.1165A>G ENSP00000263604.4:p.Ile389Val
ENST00000371757.6:c.1264A>G ENSP00000360822.2:p.Ile422Val
ENST00000460750.5:c.*874A>G ENSP00000418777.1:n.*874A>G
ENST00000486577.6:c.1147A>G ENSP00000417578.3:p.Ile383Val
ENST00000487664.5:c.1264A>G ENSP00000417851.2:p.Ile422Val
ENST00000488444.6:c.1207A>G ENSP00000419007.3:p.Ile403Val
ENST00000490355.6:c.1207A>G ENSP00000418003.3:p.Ile403Val
ENST00000490363.3:n.1083A>G
ENST00000491806.6:c.1207A>G ENSP00000419086.3:p.Ile403Val
ENST00000628528.2:c.1129A>G ENSP00000486374.1:p.Ile377Val
ENST00000630792.2:c.1105A>G ENSP00000486486.1:p.Ile369Val
ENST00000631073.2:c.1207A>G ENSP00000486130.1:p.Ile403Val
NM_001272003.1:c.1129A>G NP_001258932.1:p.Ile377Val
NM_020822.2:c.1264A>G NP_065873.2:p.Ile422Val
XM_011518877.1:c.1399A>G XP_011517179.1:p.Ile467Val
XM_011518878.1:c.1408A>G XP_011517180.1:p.Ile470Val
XM_011518879.1:c.1399A>G XP_011517181.1:p.Ile467Val
XM_011518880.1:c.1165A>G XP_011517182.1:p.Ile389Val
XM_011518881.1:c.754A>G XP_011517183.1:p.Ile252Val
XM_011518877.3:c.1399A>G XP_011517179.1:p.Ile467Val
XM_011518878.3:c.1408A>G XP_011517180.1:p.Ile470Val
XM_011518879.3:c.1399A>G XP_011517181.1:p.Ile467Val
XM_011518881.3:c.754A>G XP_011517183.1:p.Ile252Val
XM_017014931.1:c.1198A>G XP_016870420.1:p.Ile400Val
XM_017014932.1:c.1021A>G XP_016870421.1:p.Ile341Val
XM_017014933.1:c.754A>G XP_016870422.1:p.Ile252Val
XM_024447617.1:c.754A>G XP_024303385.1:p.Ile252Val
XM_024447618.1:c.754A>G XP_024303386.1:p.Ile252Val
NM_020822.3:c.1264A>G MANE Select NP_065873.2:p.Ile422Val
NM_001272003.2:c.1129A>G NP_001258932.1:p.Ile377Val