Canonical Allele Identifier: CA16618794
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420864
ClinVar RCV Id: RCV000484142
dbSNP Id: rs1064794752

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765649C>T , CM000671.2:g.135765649C>T GRCh38
NC_000009.11:g.138657495C>T , CM000671.1:g.138657495C>T GRCh37
NC_000009.10:g.137797316C>T NCBI36
NG_033070.1:g.68465C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1226C>T MANE Select ENSP00000360822.2:p.Pro409Leu
ENST00000674572.1:c.1067C>T ENSP00000501742.1:p.Pro356Leu
ENST00000675090.1:c.974C>T ENSP00000501833.1:p.Pro325Leu
ENST00000675399.1:c.974C>T ENSP00000501932.1:p.Pro325Leu
ENST00000676421.1:c.983C>T ENSP00000502322.1:p.Pro328Leu
ENST00000263604.5:c.1127C>T ENSP00000263604.4:p.Pro376Leu
ENST00000371757.6:c.1226C>T ENSP00000360822.2:p.Pro409Leu
ENST00000460750.5:c.*836C>T ENSP00000418777.1:n.*836C>T
ENST00000486577.6:c.1109C>T ENSP00000417578.3:p.Pro370Leu
ENST00000487664.5:c.1226C>T ENSP00000417851.2:p.Pro409Leu
ENST00000488444.6:c.1169C>T ENSP00000419007.3:p.Pro390Leu
ENST00000490355.6:c.1169C>T ENSP00000418003.3:p.Pro390Leu
ENST00000490363.3:n.1045C>T
ENST00000491806.6:c.1169C>T ENSP00000419086.3:p.Pro390Leu
ENST00000628528.2:c.1091C>T ENSP00000486374.1:p.Pro364Leu
ENST00000630792.2:c.1067C>T ENSP00000486486.1:p.Pro356Leu
ENST00000631073.2:c.1169C>T ENSP00000486130.1:p.Pro390Leu
NM_001272003.1:c.1091C>T NP_001258932.1:p.Pro364Leu
NM_020822.2:c.1226C>T NP_065873.2:p.Pro409Leu
XM_011518877.1:c.1361C>T XP_011517179.1:p.Pro454Leu
XM_011518878.1:c.1370C>T XP_011517180.1:p.Pro457Leu
XM_011518879.1:c.1361C>T XP_011517181.1:p.Pro454Leu
XM_011518880.1:c.1127C>T XP_011517182.1:p.Pro376Leu
XM_011518881.1:c.716C>T XP_011517183.1:p.Pro239Leu
XM_011518877.3:c.1361C>T XP_011517179.1:p.Pro454Leu
XM_011518878.3:c.1370C>T XP_011517180.1:p.Pro457Leu
XM_011518879.3:c.1361C>T XP_011517181.1:p.Pro454Leu
XM_011518881.3:c.716C>T XP_011517183.1:p.Pro239Leu
XM_017014931.1:c.1160C>T XP_016870420.1:p.Pro387Leu
XM_017014932.1:c.983C>T XP_016870421.1:p.Pro328Leu
XM_017014933.1:c.716C>T XP_016870422.1:p.Pro239Leu
XM_024447617.1:c.716C>T XP_024303385.1:p.Pro239Leu
XM_024447618.1:c.716C>T XP_024303386.1:p.Pro239Leu
NM_020822.3:c.1226C>T MANE Select NP_065873.2:p.Pro409Leu
NM_001272003.2:c.1091C>T NP_001258932.1:p.Pro364Leu