Canonical Allele Identifier: CA375501359
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765675A>G , CM000671.2:g.135765675A>G GRCh38
NC_000009.11:g.138657521A>G , CM000671.1:g.138657521A>G GRCh37
NC_000009.10:g.137797342A>G NCBI36
NG_033070.1:g.68491A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1252A>G MANE Select ENSP00000360822.2:p.Arg418Gly
ENST00000674572.1:c.1093A>G ENSP00000501742.1:p.Arg365Gly
ENST00000675090.1:c.1000A>G ENSP00000501833.1:p.Arg334Gly
ENST00000675399.1:c.1000A>G ENSP00000501932.1:p.Arg334Gly
ENST00000676421.1:c.1009A>G ENSP00000502322.1:p.Arg337Gly
ENST00000263604.5:c.1153A>G ENSP00000263604.4:p.Arg385Gly
ENST00000371757.6:c.1252A>G ENSP00000360822.2:p.Arg418Gly
ENST00000460750.5:c.*862A>G ENSP00000418777.1:n.*862A>G
ENST00000486577.6:c.1135A>G ENSP00000417578.3:p.Arg379Gly
ENST00000487664.5:c.1252A>G ENSP00000417851.2:p.Arg418Gly
ENST00000488444.6:c.1195A>G ENSP00000419007.3:p.Arg399Gly
ENST00000490355.6:c.1195A>G ENSP00000418003.3:p.Arg399Gly
ENST00000490363.3:n.1071A>G
ENST00000491806.6:c.1195A>G ENSP00000419086.3:p.Arg399Gly
ENST00000628528.2:c.1117A>G ENSP00000486374.1:p.Arg373Gly
ENST00000630792.2:c.1093A>G ENSP00000486486.1:p.Arg365Gly
ENST00000631073.2:c.1195A>G ENSP00000486130.1:p.Arg399Gly
NM_001272003.1:c.1117A>G NP_001258932.1:p.Arg373Gly
NM_020822.2:c.1252A>G NP_065873.2:p.Arg418Gly
XM_011518877.1:c.1387A>G XP_011517179.1:p.Arg463Gly
XM_011518878.1:c.1396A>G XP_011517180.1:p.Arg466Gly
XM_011518879.1:c.1387A>G XP_011517181.1:p.Arg463Gly
XM_011518880.1:c.1153A>G XP_011517182.1:p.Arg385Gly
XM_011518881.1:c.742A>G XP_011517183.1:p.Arg248Gly
XM_011518877.3:c.1387A>G XP_011517179.1:p.Arg463Gly
XM_011518878.3:c.1396A>G XP_011517180.1:p.Arg466Gly
XM_011518879.3:c.1387A>G XP_011517181.1:p.Arg463Gly
XM_011518881.3:c.742A>G XP_011517183.1:p.Arg248Gly
XM_017014931.1:c.1186A>G XP_016870420.1:p.Arg396Gly
XM_017014932.1:c.1009A>G XP_016870421.1:p.Arg337Gly
XM_017014933.1:c.742A>G XP_016870422.1:p.Arg248Gly
XM_024447617.1:c.742A>G XP_024303385.1:p.Arg248Gly
XM_024447618.1:c.742A>G XP_024303386.1:p.Arg248Gly
NM_020822.3:c.1252A>G MANE Select NP_065873.2:p.Arg418Gly
NM_001272003.2:c.1117A>G NP_001258932.1:p.Arg373Gly