Canonical Allele Identifier: CA375500101

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765106G>C , CM000671.2:g.135765106G>C	GRCh38
NC_000009.11:g.138656952G>C , CM000671.1:g.138656952G>C	GRCh37
NC_000009.10:g.137796773G>C	NCBI36
NG_033070.1:g.67922G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020822.3:c.1111G>C MANE Select	NP_065873.2:p.Glu371Gln
ENST00000371757.7:c.1111G>C MANE Select	ENSP00000360822.2:p.Glu371Gln
NM_001272003.1:c.976G>C	NP_001258932.1:p.Glu326Gln
NM_001272003.2:c.976G>C	NP_001258932.1:p.Glu326Gln
NM_020822.2:c.1111G>C	NP_065873.2:p.Glu371Gln
ENST00000263604.5:c.1012G>C	ENSP00000263604.4:p.Glu338Gln
ENST00000371757.6:c.1111G>C	ENSP00000360822.2:p.Glu371Gln
ENST00000460750.5:c.*721G>C	ENSP00000418777.1:n.*721G>C
ENST00000486577.6:c.994G>C	ENSP00000417578.3:p.Glu332Gln
ENST00000487664.5:c.1111G>C	ENSP00000417851.2:p.Glu371Gln
ENST00000488444.6:c.1054G>C	ENSP00000419007.3:p.Glu352Gln
ENST00000490355.6:c.1054G>C	ENSP00000418003.3:p.Glu352Gln
ENST00000490363.3:n.930G>C
ENST00000491806.6:c.1054G>C	ENSP00000419086.3:p.Glu352Gln
ENST00000628528.2:c.976G>C	ENSP00000486374.1:p.Glu326Gln
ENST00000630792.2:c.952G>C	ENSP00000486486.1:p.Glu318Gln
ENST00000631073.2:c.1054G>C	ENSP00000486130.1:p.Glu352Gln
ENST00000674572.1:c.952G>C	ENSP00000501742.1:p.Glu318Gln
ENST00000675090.1:c.859G>C	ENSP00000501833.1:p.Glu287Gln
ENST00000675399.1:c.859G>C	ENSP00000501932.1:p.Glu287Gln
ENST00000676421.1:c.868G>C	ENSP00000502322.1:p.Glu290Gln
XM_011518877.1:c.1246G>C	XP_011517179.1:p.Glu416Gln
XM_011518877.3:c.1246G>C	XP_011517179.1:p.Glu416Gln
XM_011518878.1:c.1255G>C	XP_011517180.1:p.Glu419Gln
XM_011518878.3:c.1255G>C	XP_011517180.1:p.Glu419Gln
XM_011518879.1:c.1246G>C	XP_011517181.1:p.Glu416Gln
XM_011518879.3:c.1246G>C	XP_011517181.1:p.Glu416Gln
XM_011518880.1:c.1012G>C	XP_011517182.1:p.Glu338Gln
XM_011518881.1:c.601G>C	XP_011517183.1:p.Glu201Gln
XM_011518881.3:c.601G>C	XP_011517183.1:p.Glu201Gln
XM_017014931.1:c.1045G>C	XP_016870420.1:p.Glu349Gln
XM_017014932.1:c.868G>C	XP_016870421.1:p.Glu290Gln
XM_017014933.1:c.601G>C	XP_016870422.1:p.Glu201Gln
XM_024447617.1:c.601G>C	XP_024303385.1:p.Glu201Gln
XM_024447618.1:c.601G>C	XP_024303386.1:p.Glu201Gln