Canonical Allele Identifier: CA375506846
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1435072
ClinVar RCV Id: RCV001955243
dbSNP Id: rs142760483

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135770436C>A , CM000671.2:g.135770436C>A GRCh38
NC_000009.11:g.138662282C>A , CM000671.1:g.138662282C>A GRCh37
NC_000009.10:g.137802103C>A NCBI36
NG_033070.1:g.73252C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1758C>A MANE Select ENSP00000360822.2:p.His586Gln
ENST00000674572.1:c.1599C>A ENSP00000501742.1:p.His533Gln
ENST00000675090.1:c.1506C>A ENSP00000501833.1:p.His502Gln
ENST00000675399.1:c.1506C>A ENSP00000501932.1:p.His502Gln
ENST00000676421.1:c.1515C>A ENSP00000502322.1:p.His505Gln
ENST00000263604.5:c.1659C>A ENSP00000263604.4:p.His553Gln
ENST00000371757.6:c.1758C>A ENSP00000360822.2:p.His586Gln
ENST00000460750.5:c.*1368C>A ENSP00000418777.1:n.*1368C>A
ENST00000486577.6:c.1641C>A ENSP00000417578.3:p.His547Gln
ENST00000487664.5:c.1758C>A ENSP00000417851.2:p.His586Gln
ENST00000488444.6:c.1701C>A ENSP00000419007.3:p.His567Gln
ENST00000490355.6:c.1701C>A ENSP00000418003.3:p.His567Gln
ENST00000490363.3:n.1577C>A
ENST00000491806.6:c.1701C>A ENSP00000419086.3:p.His567Gln
ENST00000628528.2:c.1623C>A ENSP00000486374.1:p.His541Gln
ENST00000630792.2:c.1599C>A ENSP00000486486.1:p.His533Gln
ENST00000631073.2:c.1701C>A ENSP00000486130.1:p.His567Gln
NM_001272003.1:c.1623C>A NP_001258932.1:p.His541Gln
NM_020822.2:c.1758C>A NP_065873.2:p.His586Gln
XM_011518877.1:c.1893C>A XP_011517179.1:p.His631Gln
XM_011518878.1:c.1902C>A XP_011517180.1:p.His634Gln
XM_011518879.1:c.1893C>A XP_011517181.1:p.His631Gln
XM_011518880.1:c.1659C>A XP_011517182.1:p.His553Gln
XM_011518881.1:c.1248C>A XP_011517183.1:p.His416Gln
XM_011518877.3:c.1893C>A XP_011517179.1:p.His631Gln
XM_011518878.3:c.1902C>A XP_011517180.1:p.His634Gln
XM_011518879.3:c.1893C>A XP_011517181.1:p.His631Gln
XM_011518881.3:c.1248C>A XP_011517183.1:p.His416Gln
XM_017014931.1:c.1692C>A XP_016870420.1:p.His564Gln
XM_017014932.1:c.1515C>A XP_016870421.1:p.His505Gln
XM_017014933.1:c.1248C>A XP_016870422.1:p.His416Gln
XM_024447617.1:c.1248C>A XP_024303385.1:p.His416Gln
XM_024447618.1:c.1248C>A XP_024303386.1:p.His416Gln
NM_020822.3:c.1758C>A MANE Select NP_065873.2:p.His586Gln
NM_001272003.2:c.1623C>A NP_001258932.1:p.His541Gln