Canonical Allele Identifier: CA467698150
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2933016
ClinVar RCV Id: RCV003798182
dbSNP Id: rs1832216514
MyVariant Identifiers: chr9:g.138657520C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765674C>G , CM000671.2:g.135765674C>G GRCh38
NC_000009.11:g.138657520C>G , CM000671.1:g.138657520C>G GRCh37
NC_000009.10:g.137797341C>G NCBI36
NG_033070.1:g.68490C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1251C>G MANE Select ENSP00000360822.2:p.Arg417=
ENST00000674572.1:c.1092C>G ENSP00000501742.1:p.Arg364=
ENST00000675090.1:c.999C>G ENSP00000501833.1:p.Arg333=
ENST00000675399.1:c.999C>G ENSP00000501932.1:p.Arg333=
ENST00000676421.1:c.1008C>G ENSP00000502322.1:p.Arg336=
ENST00000263604.5:c.1152C>G ENSP00000263604.4:p.Arg384=
ENST00000371757.6:c.1251C>G ENSP00000360822.2:p.Arg417=
ENST00000460750.5:c.*861C>G ENSP00000418777.1:n.*861C>G
ENST00000486577.6:c.1134C>G ENSP00000417578.3:p.Arg378=
ENST00000487664.5:c.1251C>G ENSP00000417851.2:p.Arg417=
ENST00000488444.6:c.1194C>G ENSP00000419007.3:p.Arg398=
ENST00000490355.6:c.1194C>G ENSP00000418003.3:p.Arg398=
ENST00000490363.3:n.1070C>G
ENST00000491806.6:c.1194C>G ENSP00000419086.3:p.Arg398=
ENST00000628528.2:c.1116C>G ENSP00000486374.1:p.Arg372=
ENST00000630792.2:c.1092C>G ENSP00000486486.1:p.Arg364=
ENST00000631073.2:c.1194C>G ENSP00000486130.1:p.Arg398=
NM_001272003.1:c.1116C>G NP_001258932.1:p.Arg372=
NM_020822.2:c.1251C>G NP_065873.2:p.Arg417=
XM_011518877.1:c.1386C>G XP_011517179.1:p.Arg462=
XM_011518878.1:c.1395C>G XP_011517180.1:p.Arg465=
XM_011518879.1:c.1386C>G XP_011517181.1:p.Arg462=
XM_011518880.1:c.1152C>G XP_011517182.1:p.Arg384=
XM_011518881.1:c.741C>G XP_011517183.1:p.Arg247=
XM_011518877.3:c.1386C>G XP_011517179.1:p.Arg462=
XM_011518878.3:c.1395C>G XP_011517180.1:p.Arg465=
XM_011518879.3:c.1386C>G XP_011517181.1:p.Arg462=
XM_011518881.3:c.741C>G XP_011517183.1:p.Arg247=
XM_017014931.1:c.1185C>G XP_016870420.1:p.Arg395=
XM_017014932.1:c.1008C>G XP_016870421.1:p.Arg336=
XM_017014933.1:c.741C>G XP_016870422.1:p.Arg247=
XM_024447617.1:c.741C>G XP_024303385.1:p.Arg247=
XM_024447618.1:c.741C>G XP_024303386.1:p.Arg247=
NM_020822.3:c.1251C>G MANE Select NP_065873.2:p.Arg417=
NM_001272003.2:c.1116C>G NP_001258932.1:p.Arg372=