Canonical Allele Identifier: CA375506087

Gene: KCNT1

Linked Data

• COSMIC: COSM5711190 ; COSM5711191
• MyVariant Identifiers: chr9:g.138662147G>T (hg19) ; chr9:g.135770301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770301G>T , CM000671.2:g.135770301G>T	GRCh38
NC_000009.11:g.138662147G>T , CM000671.1:g.138662147G>T	GRCh37
NC_000009.10:g.137801968G>T	NCBI36
NG_033070.1:g.73117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1623G>T MANE Select	ENSP00000360822.2:p.Glu541Asp
ENST00000674572.1:c.1464G>T	ENSP00000501742.1:p.Glu488Asp
ENST00000675090.1:c.1371G>T	ENSP00000501833.1:p.Glu457Asp
ENST00000675399.1:c.1371G>T	ENSP00000501932.1:p.Glu457Asp
ENST00000676421.1:c.1380G>T	ENSP00000502322.1:p.Glu460Asp
ENST00000263604.5:c.1524G>T	ENSP00000263604.4:p.Glu508Asp
ENST00000371757.6:c.1623G>T	ENSP00000360822.2:p.Glu541Asp
ENST00000460750.5:c.*1233G>T	ENSP00000418777.1:n.*1233G>T
ENST00000486577.6:c.1506G>T	ENSP00000417578.3:p.Glu502Asp
ENST00000487664.5:c.1623G>T	ENSP00000417851.2:p.Glu541Asp
ENST00000488444.6:c.1566G>T	ENSP00000419007.3:p.Glu522Asp
ENST00000490355.6:c.1566G>T	ENSP00000418003.3:p.Glu522Asp
ENST00000490363.3:n.1442G>T
ENST00000491806.6:c.1566G>T	ENSP00000419086.3:p.Glu522Asp
ENST00000628528.2:c.1488G>T	ENSP00000486374.1:p.Glu496Asp
ENST00000630792.2:c.1464G>T	ENSP00000486486.1:p.Glu488Asp
ENST00000631073.2:c.1566G>T	ENSP00000486130.1:p.Glu522Asp
NM_001272003.1:c.1488G>T	NP_001258932.1:p.Glu496Asp
NM_020822.2:c.1623G>T	NP_065873.2:p.Glu541Asp
XM_011518877.1:c.1758G>T	XP_011517179.1:p.Glu586Asp
XM_011518878.1:c.1767G>T	XP_011517180.1:p.Glu589Asp
XM_011518879.1:c.1758G>T	XP_011517181.1:p.Glu586Asp
XM_011518880.1:c.1524G>T	XP_011517182.1:p.Glu508Asp
XM_011518881.1:c.1113G>T	XP_011517183.1:p.Glu371Asp
XM_011518877.3:c.1758G>T	XP_011517179.1:p.Glu586Asp
XM_011518878.3:c.1767G>T	XP_011517180.1:p.Glu589Asp
XM_011518879.3:c.1758G>T	XP_011517181.1:p.Glu586Asp
XM_011518881.3:c.1113G>T	XP_011517183.1:p.Glu371Asp
XM_017014931.1:c.1557G>T	XP_016870420.1:p.Glu519Asp
XM_017014932.1:c.1380G>T	XP_016870421.1:p.Glu460Asp
XM_017014933.1:c.1113G>T	XP_016870422.1:p.Glu371Asp
XM_024447617.1:c.1113G>T	XP_024303385.1:p.Glu371Asp
XM_024447618.1:c.1113G>T	XP_024303386.1:p.Glu371Asp
NM_020822.3:c.1623G>T MANE Select	NP_065873.2:p.Glu541Asp
NM_001272003.2:c.1488G>T	NP_001258932.1:p.Glu496Asp