Canonical Allele Identifier: CA375506716

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138662251A>T (hg19) ; chr9:g.135770405A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770405A>T , CM000671.2:g.135770405A>T	GRCh38
NC_000009.11:g.138662251A>T , CM000671.1:g.138662251A>T	GRCh37
NC_000009.10:g.137802072A>T	NCBI36
NG_033070.1:g.73221A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1727A>T MANE Select	ENSP00000360822.2:p.Glu576Val
ENST00000674572.1:c.1568A>T	ENSP00000501742.1:p.Glu523Val
ENST00000675090.1:c.1475A>T	ENSP00000501833.1:p.Glu492Val
ENST00000675399.1:c.1475A>T	ENSP00000501932.1:p.Glu492Val
ENST00000676421.1:c.1484A>T	ENSP00000502322.1:p.Glu495Val
ENST00000263604.5:c.1628A>T	ENSP00000263604.4:p.Glu543Val
ENST00000371757.6:c.1727A>T	ENSP00000360822.2:p.Glu576Val
ENST00000460750.5:c.*1337A>T	ENSP00000418777.1:n.*1337A>T
ENST00000486577.6:c.1610A>T	ENSP00000417578.3:p.Glu537Val
ENST00000487664.5:c.1727A>T	ENSP00000417851.2:p.Glu576Val
ENST00000488444.6:c.1670A>T	ENSP00000419007.3:p.Glu557Val
ENST00000490355.6:c.1670A>T	ENSP00000418003.3:p.Glu557Val
ENST00000490363.3:n.1546A>T
ENST00000491806.6:c.1670A>T	ENSP00000419086.3:p.Glu557Val
ENST00000628528.2:c.1592A>T	ENSP00000486374.1:p.Glu531Val
ENST00000630792.2:c.1568A>T	ENSP00000486486.1:p.Glu523Val
ENST00000631073.2:c.1670A>T	ENSP00000486130.1:p.Glu557Val
NM_001272003.1:c.1592A>T	NP_001258932.1:p.Glu531Val
NM_020822.2:c.1727A>T	NP_065873.2:p.Glu576Val
XM_011518877.1:c.1862A>T	XP_011517179.1:p.Glu621Val
XM_011518878.1:c.1871A>T	XP_011517180.1:p.Glu624Val
XM_011518879.1:c.1862A>T	XP_011517181.1:p.Glu621Val
XM_011518880.1:c.1628A>T	XP_011517182.1:p.Glu543Val
XM_011518881.1:c.1217A>T	XP_011517183.1:p.Glu406Val
XM_011518877.3:c.1862A>T	XP_011517179.1:p.Glu621Val
XM_011518878.3:c.1871A>T	XP_011517180.1:p.Glu624Val
XM_011518879.3:c.1862A>T	XP_011517181.1:p.Glu621Val
XM_011518881.3:c.1217A>T	XP_011517183.1:p.Glu406Val
XM_017014931.1:c.1661A>T	XP_016870420.1:p.Glu554Val
XM_017014932.1:c.1484A>T	XP_016870421.1:p.Glu495Val
XM_017014933.1:c.1217A>T	XP_016870422.1:p.Glu406Val
XM_024447617.1:c.1217A>T	XP_024303385.1:p.Glu406Val
XM_024447618.1:c.1217A>T	XP_024303386.1:p.Glu406Val
NM_020822.3:c.1727A>T MANE Select	NP_065873.2:p.Glu576Val
NM_001272003.2:c.1592A>T	NP_001258932.1:p.Glu531Val