Canonical Allele Identifier: CA375512322
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135775370C>G , CM000671.2:g.135775370C>G GRCh38
NC_000009.11:g.138667216C>G , CM000671.1:g.138667216C>G GRCh37
NC_000009.10:g.137807037C>G NCBI36
NG_033070.1:g.78186C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.2304C>G MANE Select ENSP00000360822.2:p.His768Gln
ENST00000674572.1:c.2145C>G ENSP00000501742.1:p.His715Gln
ENST00000675090.1:c.2052C>G ENSP00000501833.1:p.His684Gln
ENST00000675399.1:c.2052C>G ENSP00000501932.1:p.His684Gln
ENST00000676421.1:c.2061C>G ENSP00000502322.1:p.His687Gln
ENST00000263604.5:c.2205C>G ENSP00000263604.4:p.His735Gln
ENST00000371757.6:c.2304C>G ENSP00000360822.2:p.His768Gln
ENST00000460750.5:c.*1914C>G ENSP00000418777.1:n.*1914C>G
ENST00000486577.6:c.2187C>G ENSP00000417578.3:p.His729Gln
ENST00000487664.5:c.2304C>G ENSP00000417851.2:p.His768Gln
ENST00000488444.6:c.2247C>G ENSP00000419007.3:p.His749Gln
ENST00000490355.6:c.2241C>G ENSP00000418003.3:p.His747Gln
ENST00000490363.3:n.2123C>G
ENST00000491806.6:c.2247C>G ENSP00000419086.3:p.His749Gln
ENST00000628528.2:c.2169C>G ENSP00000486374.1:p.His723Gln
ENST00000630792.2:c.2139C>G ENSP00000486486.1:p.His713Gln
ENST00000631073.2:c.2247C>G ENSP00000486130.1:p.His749Gln
ENST00000631193.1:c.153C>G ENSP00000486830.1:p.His51Gln
NM_001272003.1:c.2169C>G NP_001258932.1:p.His723Gln
NM_020822.2:c.2304C>G NP_065873.2:p.His768Gln
XM_011518877.1:c.2439C>G XP_011517179.1:p.His813Gln
XM_011518878.1:c.2448C>G XP_011517180.1:p.His816Gln
XM_011518879.1:c.2439C>G XP_011517181.1:p.His813Gln
XM_011518880.1:c.2205C>G XP_011517182.1:p.His735Gln
XM_011518881.1:c.1794C>G XP_011517183.1:p.His598Gln
XM_011518877.3:c.2439C>G XP_011517179.1:p.His813Gln
XM_011518878.3:c.2448C>G XP_011517180.1:p.His816Gln
XM_011518879.3:c.2439C>G XP_011517181.1:p.His813Gln
XM_011518881.3:c.1794C>G XP_011517183.1:p.His598Gln
XM_017014931.1:c.2238C>G XP_016870420.1:p.His746Gln
XM_017014932.1:c.2061C>G XP_016870421.1:p.His687Gln
XM_017014933.1:c.1794C>G XP_016870422.1:p.His598Gln
XM_024447617.1:c.1794C>G XP_024303385.1:p.His598Gln
XM_024447618.1:c.1794C>G XP_024303386.1:p.His598Gln
NM_020822.3:c.2304C>G MANE Select NP_065873.2:p.His768Gln
NM_001272003.2:c.2169C>G NP_001258932.1:p.His723Gln