Canonical Allele Identifier: CA467698498

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138662156G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770310G>A , CM000671.2:g.135770310G>A	GRCh38
NC_000009.11:g.138662156G>A , CM000671.1:g.138662156G>A	GRCh37
NC_000009.10:g.137801977G>A	NCBI36
NG_033070.1:g.73126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1632G>A MANE Select	ENSP00000360822.2:p.Glu544=
ENST00000674572.1:c.1473G>A	ENSP00000501742.1:p.Glu491=
ENST00000675090.1:c.1380G>A	ENSP00000501833.1:p.Glu460=
ENST00000675399.1:c.1380G>A	ENSP00000501932.1:p.Glu460=
ENST00000676421.1:c.1389G>A	ENSP00000502322.1:p.Glu463=
ENST00000263604.5:c.1533G>A	ENSP00000263604.4:p.Glu511=
ENST00000371757.6:c.1632G>A	ENSP00000360822.2:p.Glu544=
ENST00000460750.5:c.*1242G>A	ENSP00000418777.1:n.*1242G>A
ENST00000486577.6:c.1515G>A	ENSP00000417578.3:p.Glu505=
ENST00000487664.5:c.1632G>A	ENSP00000417851.2:p.Glu544=
ENST00000488444.6:c.1575G>A	ENSP00000419007.3:p.Glu525=
ENST00000490355.6:c.1575G>A	ENSP00000418003.3:p.Glu525=
ENST00000490363.3:n.1451G>A
ENST00000491806.6:c.1575G>A	ENSP00000419086.3:p.Glu525=
ENST00000628528.2:c.1497G>A	ENSP00000486374.1:p.Glu499=
ENST00000630792.2:c.1473G>A	ENSP00000486486.1:p.Glu491=
ENST00000631073.2:c.1575G>A	ENSP00000486130.1:p.Glu525=
NM_001272003.1:c.1497G>A	NP_001258932.1:p.Glu499=
NM_020822.2:c.1632G>A	NP_065873.2:p.Glu544=
XM_011518877.1:c.1767G>A	XP_011517179.1:p.Glu589=
XM_011518878.1:c.1776G>A	XP_011517180.1:p.Glu592=
XM_011518879.1:c.1767G>A	XP_011517181.1:p.Glu589=
XM_011518880.1:c.1533G>A	XP_011517182.1:p.Glu511=
XM_011518881.1:c.1122G>A	XP_011517183.1:p.Glu374=
XM_011518877.3:c.1767G>A	XP_011517179.1:p.Glu589=
XM_011518878.3:c.1776G>A	XP_011517180.1:p.Glu592=
XM_011518879.3:c.1767G>A	XP_011517181.1:p.Glu589=
XM_011518881.3:c.1122G>A	XP_011517183.1:p.Glu374=
XM_017014931.1:c.1566G>A	XP_016870420.1:p.Glu522=
XM_017014932.1:c.1389G>A	XP_016870421.1:p.Glu463=
XM_017014933.1:c.1122G>A	XP_016870422.1:p.Glu374=
XM_024447617.1:c.1122G>A	XP_024303385.1:p.Glu374=
XM_024447618.1:c.1122G>A	XP_024303386.1:p.Glu374=
NM_020822.3:c.1632G>A MANE Select	NP_065873.2:p.Glu544=
NM_001272003.2:c.1497G>A	NP_001258932.1:p.Glu499=