Canonical Allele Identifier: CA375494969
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135750983A>G , CM000671.2:g.135750983A>G GRCh38
NC_000009.11:g.138642829A>G , CM000671.1:g.138642829A>G GRCh37
NC_000009.10:g.137782650A>G NCBI36
NG_033070.1:g.53799A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020822.3:c.376A>G MANE Select NP_065873.2:p.Thr126Ala
ENST00000371757.7:c.376A>G MANE Select ENSP00000360822.2:p.Thr126Ala
NM_001272003.1:c.232A>G NP_001258932.1:p.Thr78Ala
NM_001272003.2:c.232A>G NP_001258932.1:p.Thr78Ala
NM_020822.2:c.376A>G NP_065873.2:p.Thr126Ala
ENST00000263604.5:c.277A>G ENSP00000263604.4:p.Thr93Ala
ENST00000371757.6:c.376A>G ENSP00000360822.2:p.Thr126Ala
ENST00000460750.5:c.334+806A>G ENSP00000418777.1:n.334+806A>G
ENST00000473941.5:c.217A>G ENSP00000420764.1:p.Thr73Ala
ENST00000486577.6:c.259A>G ENSP00000417578.3:p.Thr87Ala
ENST00000487664.5:c.376A>G ENSP00000417851.2:p.Thr126Ala
ENST00000488444.6:c.319A>G ENSP00000419007.3:p.Thr107Ala
ENST00000490355.6:c.319A>G ENSP00000418003.3:p.Thr107Ala
ENST00000491806.6:c.319A>G ENSP00000419086.3:p.Thr107Ala
ENST00000628528.2:c.232A>G ENSP00000486374.1:p.Thr78Ala
ENST00000630792.2:c.217A>G ENSP00000486486.1:p.Thr73Ala
ENST00000631073.2:c.319A>G ENSP00000486130.1:p.Thr107Ala
ENST00000674572.1:c.217A>G ENSP00000501742.1:p.Thr73Ala
ENST00000675090.1:c.124A>G ENSP00000501833.1:p.Thr42Ala
ENST00000675399.1:c.124A>G ENSP00000501932.1:p.Thr42Ala
ENST00000676421.1:c.124A>G ENSP00000502322.1:p.Thr42Ala
XM_011518877.1:c.511A>G XP_011517179.1:p.Thr171Ala
XM_011518877.3:c.511A>G XP_011517179.1:p.Thr171Ala
XM_011518878.1:c.511A>G XP_011517180.1:p.Thr171Ala
XM_011518878.3:c.511A>G XP_011517180.1:p.Thr171Ala
XM_011518879.1:c.511A>G XP_011517181.1:p.Thr171Ala
XM_011518879.3:c.511A>G XP_011517181.1:p.Thr171Ala
XM_011518880.1:c.277A>G XP_011517182.1:p.Thr93Ala
XM_017014931.1:c.359+806A>G XP_016870420.1:n.359+806A>G
XM_017014932.1:c.124A>G XP_016870421.1:p.Thr42Ala
XM_017014933.1:c.-86+806A>G XP_016870422.1:n.-86+806A>G
XM_024447617.1:c.-144A>G XP_024303385.1:n.-144A>G
XM_024447618.1:c.-144A>G XP_024303386.1:n.-144A>G