Canonical Allele Identifier: CA5326488

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135755162C>T , CM000671.2:g.135755162C>T	GRCh38
NC_000009.11:g.138647008C>T , CM000671.1:g.138647008C>T	GRCh37
NC_000009.10:g.137786829C>T	NCBI36
NG_033070.1:g.57978C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020822.3:c.533C>T MANE Select	NP_065873.2:p.Ala178Val
ENST00000371757.7:c.533C>T MANE Select	ENSP00000360822.2:p.Ala178Val
NM_001272003.1:c.389C>T	NP_001258932.1:p.Ala130Val
NM_001272003.2:c.389C>T	NP_001258932.1:p.Ala130Val
NM_020822.2:c.533C>T	NP_065873.2:p.Ala178Val
ENST00000263604.5:c.434C>T	ENSP00000263604.4:p.Ala145Val
ENST00000371757.6:c.533C>T	ENSP00000360822.2:p.Ala178Val
ENST00000460750.5:c.*143C>T	ENSP00000418777.1:n.*143C>T
ENST00000473941.5:c.374C>T	ENSP00000420764.1:p.Ala125Val
ENST00000486577.6:c.416C>T	ENSP00000417578.3:p.Ala139Val
ENST00000487664.5:c.533C>T	ENSP00000417851.2:p.Ala178Val
ENST00000488444.6:c.476C>T	ENSP00000419007.3:p.Ala159Val
ENST00000490355.6:c.476C>T	ENSP00000418003.3:p.Ala159Val
ENST00000490363.3:n.285C>T
ENST00000491806.6:c.476C>T	ENSP00000419086.3:p.Ala159Val
ENST00000628528.2:c.389C>T	ENSP00000486374.1:p.Ala130Val
ENST00000630792.2:c.374C>T	ENSP00000486486.1:p.Ala125Val
ENST00000631073.2:c.476C>T	ENSP00000486130.1:p.Ala159Val
ENST00000674572.1:c.374C>T	ENSP00000501742.1:p.Ala125Val
ENST00000675090.1:c.281C>T	ENSP00000501833.1:p.Ala94Val
ENST00000675399.1:c.281C>T	ENSP00000501932.1:p.Ala94Val
ENST00000676421.1:c.281C>T	ENSP00000502322.1:p.Ala94Val
XM_011518877.1:c.668C>T	XP_011517179.1:p.Ala223Val
XM_011518877.3:c.668C>T	XP_011517179.1:p.Ala223Val
XM_011518878.1:c.668C>T	XP_011517180.1:p.Ala223Val
XM_011518878.3:c.668C>T	XP_011517180.1:p.Ala223Val
XM_011518879.1:c.668C>T	XP_011517181.1:p.Ala223Val
XM_011518879.3:c.668C>T	XP_011517181.1:p.Ala223Val
XM_011518880.1:c.434C>T	XP_011517182.1:p.Ala145Val
XM_011518881.1:c.14C>T	XP_011517183.1:p.Ala5Val
XM_011518881.3:c.14C>T	XP_011517183.1:p.Ala5Val
XM_017014931.1:c.458C>T	XP_016870420.1:p.Ala153Val
XM_017014932.1:c.281C>T	XP_016870421.1:p.Ala94Val
XM_017014933.1:c.14C>T	XP_016870422.1:p.Ala5Val
XM_024447617.1:c.14C>T	XP_024303385.1:p.Ala5Val
XM_024447618.1:c.14C>T	XP_024303386.1:p.Ala5Val