Canonical Allele Identifier: CA375500084

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765101A>T , CM000671.2:g.135765101A>T	GRCh38
NC_000009.11:g.138656947A>T , CM000671.1:g.138656947A>T	GRCh37
NC_000009.10:g.137796768A>T	NCBI36
NG_033070.1:g.67917A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1106A>T MANE Select	ENSP00000360822.2:p.Gln369Leu
ENST00000674572.1:c.947A>T	ENSP00000501742.1:p.Gln316Leu
ENST00000675090.1:c.854A>T	ENSP00000501833.1:p.Gln285Leu
ENST00000675399.1:c.854A>T	ENSP00000501932.1:p.Gln285Leu
ENST00000676421.1:c.863A>T	ENSP00000502322.1:p.Gln288Leu
ENST00000263604.5:c.1007A>T	ENSP00000263604.4:p.Gln336Leu
ENST00000371757.6:c.1106A>T	ENSP00000360822.2:p.Gln369Leu
ENST00000460750.5:c.*716A>T	ENSP00000418777.1:n.*716A>T
ENST00000486577.6:c.989A>T	ENSP00000417578.3:p.Gln330Leu
ENST00000487664.5:c.1106A>T	ENSP00000417851.2:p.Gln369Leu
ENST00000488444.6:c.1049A>T	ENSP00000419007.3:p.Gln350Leu
ENST00000490355.6:c.1049A>T	ENSP00000418003.3:p.Gln350Leu
ENST00000490363.3:n.925A>T
ENST00000491806.6:c.1049A>T	ENSP00000419086.3:p.Gln350Leu
ENST00000628528.2:c.971A>T	ENSP00000486374.1:p.Gln324Leu
ENST00000630792.2:c.947A>T	ENSP00000486486.1:p.Gln316Leu
ENST00000631073.2:c.1049A>T	ENSP00000486130.1:p.Gln350Leu
NM_001272003.1:c.971A>T	NP_001258932.1:p.Gln324Leu
NM_020822.2:c.1106A>T	NP_065873.2:p.Gln369Leu
XM_011518877.1:c.1241A>T	XP_011517179.1:p.Gln414Leu
XM_011518878.1:c.1250A>T	XP_011517180.1:p.Gln417Leu
XM_011518879.1:c.1241A>T	XP_011517181.1:p.Gln414Leu
XM_011518880.1:c.1007A>T	XP_011517182.1:p.Gln336Leu
XM_011518881.1:c.596A>T	XP_011517183.1:p.Gln199Leu
XM_011518877.3:c.1241A>T	XP_011517179.1:p.Gln414Leu
XM_011518878.3:c.1250A>T	XP_011517180.1:p.Gln417Leu
XM_011518879.3:c.1241A>T	XP_011517181.1:p.Gln414Leu
XM_011518881.3:c.596A>T	XP_011517183.1:p.Gln199Leu
XM_017014931.1:c.1040A>T	XP_016870420.1:p.Gln347Leu
XM_017014932.1:c.863A>T	XP_016870421.1:p.Gln288Leu
XM_017014933.1:c.596A>T	XP_016870422.1:p.Gln199Leu
XM_024447617.1:c.596A>T	XP_024303385.1:p.Gln199Leu
XM_024447618.1:c.596A>T	XP_024303386.1:p.Gln199Leu
NM_020822.3:c.1106A>T MANE Select	NP_065873.2:p.Gln369Leu
NM_001272003.2:c.971A>T	NP_001258932.1:p.Gln324Leu