Canonical Allele Identifier: CA375500105

Gene: KCNT1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_020822.3:c.1112A>C MANE Select	NP_065873.2:p.Glu371Ala
ENST00000371757.7:c.1112A>C MANE Select	ENSP00000360822.2:p.Glu371Ala
NM_001272003.1:c.977A>C	NP_001258932.1:p.Glu326Ala
NM_001272003.2:c.977A>C	NP_001258932.1:p.Glu326Ala
NM_020822.2:c.1112A>C	NP_065873.2:p.Glu371Ala
ENST00000263604.5:c.1013A>C	ENSP00000263604.4:p.Glu338Ala
ENST00000371757.6:c.1112A>C	ENSP00000360822.2:p.Glu371Ala
ENST00000460750.5:c.*722A>C	ENSP00000418777.1:n.*722A>C
ENST00000486577.6:c.995A>C	ENSP00000417578.3:p.Glu332Ala
ENST00000487664.5:c.1112A>C	ENSP00000417851.2:p.Glu371Ala
ENST00000488444.6:c.1055A>C	ENSP00000419007.3:p.Glu352Ala
ENST00000490355.6:c.1055A>C	ENSP00000418003.3:p.Glu352Ala
ENST00000490363.3:n.931A>C
ENST00000491806.6:c.1055A>C	ENSP00000419086.3:p.Glu352Ala
ENST00000628528.2:c.977A>C	ENSP00000486374.1:p.Glu326Ala
ENST00000630792.2:c.953A>C	ENSP00000486486.1:p.Glu318Ala
ENST00000631073.2:c.1055A>C	ENSP00000486130.1:p.Glu352Ala
ENST00000674572.1:c.953A>C	ENSP00000501742.1:p.Glu318Ala
ENST00000675090.1:c.860A>C	ENSP00000501833.1:p.Glu287Ala
ENST00000675399.1:c.860A>C	ENSP00000501932.1:p.Glu287Ala
ENST00000676421.1:c.869A>C	ENSP00000502322.1:p.Glu290Ala
XM_011518877.1:c.1247A>C	XP_011517179.1:p.Glu416Ala
XM_011518877.3:c.1247A>C	XP_011517179.1:p.Glu416Ala
XM_011518878.1:c.1256A>C	XP_011517180.1:p.Glu419Ala
XM_011518878.3:c.1256A>C	XP_011517180.1:p.Glu419Ala
XM_011518879.1:c.1247A>C	XP_011517181.1:p.Glu416Ala
XM_011518879.3:c.1247A>C	XP_011517181.1:p.Glu416Ala
XM_011518880.1:c.1013A>C	XP_011517182.1:p.Glu338Ala
XM_011518881.1:c.602A>C	XP_011517183.1:p.Glu201Ala
XM_011518881.3:c.602A>C	XP_011517183.1:p.Glu201Ala
XM_017014931.1:c.1046A>C	XP_016870420.1:p.Glu349Ala
XM_017014932.1:c.869A>C	XP_016870421.1:p.Glu290Ala
XM_017014933.1:c.602A>C	XP_016870422.1:p.Glu201Ala
XM_024447617.1:c.602A>C	XP_024303385.1:p.Glu201Ala
XM_024447618.1:c.602A>C	XP_024303386.1:p.Glu201Ala