Canonical Allele Identifier: CA375500106

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765107A>G , CM000671.2:g.135765107A>G	GRCh38
NC_000009.11:g.138656953A>G , CM000671.1:g.138656953A>G	GRCh37
NC_000009.10:g.137796774A>G	NCBI36
NG_033070.1:g.67923A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020822.3:c.1112A>G MANE Select	NP_065873.2:p.Glu371Gly
ENST00000371757.7:c.1112A>G MANE Select	ENSP00000360822.2:p.Glu371Gly
NM_001272003.1:c.977A>G	NP_001258932.1:p.Glu326Gly
NM_001272003.2:c.977A>G	NP_001258932.1:p.Glu326Gly
NM_020822.2:c.1112A>G	NP_065873.2:p.Glu371Gly
ENST00000263604.5:c.1013A>G	ENSP00000263604.4:p.Glu338Gly
ENST00000371757.6:c.1112A>G	ENSP00000360822.2:p.Glu371Gly
ENST00000460750.5:c.*722A>G	ENSP00000418777.1:n.*722A>G
ENST00000486577.6:c.995A>G	ENSP00000417578.3:p.Glu332Gly
ENST00000487664.5:c.1112A>G	ENSP00000417851.2:p.Glu371Gly
ENST00000488444.6:c.1055A>G	ENSP00000419007.3:p.Glu352Gly
ENST00000490355.6:c.1055A>G	ENSP00000418003.3:p.Glu352Gly
ENST00000490363.3:n.931A>G
ENST00000491806.6:c.1055A>G	ENSP00000419086.3:p.Glu352Gly
ENST00000628528.2:c.977A>G	ENSP00000486374.1:p.Glu326Gly
ENST00000630792.2:c.953A>G	ENSP00000486486.1:p.Glu318Gly
ENST00000631073.2:c.1055A>G	ENSP00000486130.1:p.Glu352Gly
ENST00000674572.1:c.953A>G	ENSP00000501742.1:p.Glu318Gly
ENST00000675090.1:c.860A>G	ENSP00000501833.1:p.Glu287Gly
ENST00000675399.1:c.860A>G	ENSP00000501932.1:p.Glu287Gly
ENST00000676421.1:c.869A>G	ENSP00000502322.1:p.Glu290Gly
XM_011518877.1:c.1247A>G	XP_011517179.1:p.Glu416Gly
XM_011518877.3:c.1247A>G	XP_011517179.1:p.Glu416Gly
XM_011518878.1:c.1256A>G	XP_011517180.1:p.Glu419Gly
XM_011518878.3:c.1256A>G	XP_011517180.1:p.Glu419Gly
XM_011518879.1:c.1247A>G	XP_011517181.1:p.Glu416Gly
XM_011518879.3:c.1247A>G	XP_011517181.1:p.Glu416Gly
XM_011518880.1:c.1013A>G	XP_011517182.1:p.Glu338Gly
XM_011518881.1:c.602A>G	XP_011517183.1:p.Glu201Gly
XM_011518881.3:c.602A>G	XP_011517183.1:p.Glu201Gly
XM_017014931.1:c.1046A>G	XP_016870420.1:p.Glu349Gly
XM_017014932.1:c.869A>G	XP_016870421.1:p.Glu290Gly
XM_017014933.1:c.602A>G	XP_016870422.1:p.Glu201Gly
XM_024447617.1:c.602A>G	XP_024303385.1:p.Glu201Gly
XM_024447618.1:c.602A>G	XP_024303386.1:p.Glu201Gly