Canonical Allele Identifier: CA16606388
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 387864
ClinVar RCV Id: RCV000438493
dbSNP Id: rs1057522923

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765056T>G , CM000671.2:g.135765056T>G GRCh38
NC_000009.11:g.138656902T>G , CM000671.1:g.138656902T>G GRCh37
NC_000009.10:g.137796723T>G NCBI36
NG_033070.1:g.67872T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1061T>G MANE Select ENSP00000360822.2:p.Met354Arg
ENST00000674572.1:c.902T>G ENSP00000501742.1:p.Met301Arg
ENST00000675090.1:c.809T>G ENSP00000501833.1:p.Met270Arg
ENST00000675399.1:c.809T>G ENSP00000501932.1:p.Met270Arg
ENST00000676421.1:c.818T>G ENSP00000502322.1:p.Met273Arg
ENST00000263604.5:c.962T>G ENSP00000263604.4:p.Met321Arg
ENST00000371757.6:c.1061T>G ENSP00000360822.2:p.Met354Arg
ENST00000460750.5:c.*671T>G ENSP00000418777.1:n.*671T>G
ENST00000486577.6:c.944T>G ENSP00000417578.3:p.Met315Arg
ENST00000487664.5:c.1061T>G ENSP00000417851.2:p.Met354Arg
ENST00000488444.6:c.1004T>G ENSP00000419007.3:p.Met335Arg
ENST00000490355.6:c.1004T>G ENSP00000418003.3:p.Met335Arg
ENST00000490363.3:n.880T>G
ENST00000491806.6:c.1004T>G ENSP00000419086.3:p.Met335Arg
ENST00000628528.2:c.926T>G ENSP00000486374.1:p.Met309Arg
ENST00000630792.2:c.902T>G ENSP00000486486.1:p.Met301Arg
ENST00000631073.2:c.1004T>G ENSP00000486130.1:p.Met335Arg
NM_001272003.1:c.926T>G NP_001258932.1:p.Met309Arg
NM_020822.2:c.1061T>G NP_065873.2:p.Met354Arg
XM_011518877.1:c.1196T>G XP_011517179.1:p.Met399Arg
XM_011518878.1:c.1205T>G XP_011517180.1:p.Met402Arg
XM_011518879.1:c.1196T>G XP_011517181.1:p.Met399Arg
XM_011518880.1:c.962T>G XP_011517182.1:p.Met321Arg
XM_011518881.1:c.551T>G XP_011517183.1:p.Met184Arg
XM_011518877.3:c.1196T>G XP_011517179.1:p.Met399Arg
XM_011518878.3:c.1205T>G XP_011517180.1:p.Met402Arg
XM_011518879.3:c.1196T>G XP_011517181.1:p.Met399Arg
XM_011518881.3:c.551T>G XP_011517183.1:p.Met184Arg
XM_017014931.1:c.995T>G XP_016870420.1:p.Met332Arg
XM_017014932.1:c.818T>G XP_016870421.1:p.Met273Arg
XM_017014933.1:c.551T>G XP_016870422.1:p.Met184Arg
XM_024447617.1:c.551T>G XP_024303385.1:p.Met184Arg
XM_024447618.1:c.551T>G XP_024303386.1:p.Met184Arg
NM_020822.3:c.1061T>G MANE Select NP_065873.2:p.Met354Arg
NM_001272003.2:c.926T>G NP_001258932.1:p.Met309Arg