Canonical Allele Identifier: CA1883843306
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135750134C= , CM000671.2:g.135750134C= GRCh38
NC_000009.11:g.138641980C= , CM000671.1:g.138641980C= GRCh37
NC_000009.10:g.137781801C= NCBI36
NG_033070.1:g.52950C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.291C= MANE Select ENSP00000360822.2:p.Phe97=
ENST00000637018.1:n.96C=
ENST00000638123.1:n.26C=
ENST00000674572.1:c.132C= ENSP00000501742.1:p.Phe44=
ENST00000675090.1:c.39C= ENSP00000501833.1:p.Phe13=
ENST00000675399.1:c.39C= ENSP00000501932.1:p.Phe13=
ENST00000676421.1:c.39C= ENSP00000502322.1:p.Phe13=
ENST00000263604.5:c.192C= ENSP00000263604.4:p.Phe64=
ENST00000371757.6:c.291C= ENSP00000360822.2:p.Phe97=
ENST00000460750.5:c.291C= ENSP00000418777.1:p.Phe97=
ENST00000473941.5:c.132C= ENSP00000420764.1:p.Phe44=
ENST00000486577.6:c.174C= ENSP00000417578.3:p.Phe58=
ENST00000487664.5:c.291C= ENSP00000417851.2:p.Phe97=
ENST00000488444.6:c.234C= ENSP00000419007.3:p.Phe78=
ENST00000490355.6:c.234C= ENSP00000418003.3:p.Phe78=
ENST00000491806.6:c.234C= ENSP00000419086.3:p.Phe78=
ENST00000628528.2:c.147C= ENSP00000486374.1:p.Phe49=
ENST00000630792.2:c.132C= ENSP00000486486.1:p.Phe44=
ENST00000631073.2:c.234C= ENSP00000486130.1:p.Phe78=
NM_001272003.1:c.147C= NP_001258932.1:p.Phe49=
NM_020822.2:c.291C= NP_065873.2:p.Phe97=
XM_011518877.1:c.426C= XP_011517179.1:p.Phe142=
XM_011518878.1:c.426C= XP_011517180.1:p.Phe142=
XM_011518879.1:c.426C= XP_011517181.1:p.Phe142=
XM_011518880.1:c.192C= XP_011517182.1:p.Phe64=
XM_011518877.3:c.426C= XP_011517179.1:p.Phe142=
XM_011518878.3:c.426C= XP_011517180.1:p.Phe142=
XM_011518879.3:c.426C= XP_011517181.1:p.Phe142=
XM_017014931.1:c.316C= XP_016870420.1:p.Gln106=
XM_017014932.1:c.39C= XP_016870421.1:p.Phe13=
XM_017014933.1:c.-129C= XP_016870422.1:n.-129C=
XM_024447617.1:c.-229C= XP_024303385.1:n.-229C=
XM_024447618.1:c.-229C= XP_024303386.1:n.-229C=
NM_020822.3:c.291C= MANE Select NP_065873.2:p.Phe97=
NM_001272003.2:c.147C= NP_001258932.1:p.Phe49=