Canonical Allele Identifier: CA375506012

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138661880T>A (hg19) ; chr9:g.135770034T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770034T>A , CM000671.2:g.135770034T>A	GRCh38
NC_000009.11:g.138661880T>A , CM000671.1:g.138661880T>A	GRCh37
NC_000009.10:g.137801701T>A	NCBI36
NG_033070.1:g.72850T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1598T>A MANE Select	ENSP00000360822.2:p.Leu533Gln
ENST00000674572.1:c.1439T>A	ENSP00000501742.1:p.Leu480Gln
ENST00000675090.1:c.1346T>A	ENSP00000501833.1:p.Leu449Gln
ENST00000675399.1:c.1346T>A	ENSP00000501932.1:p.Leu449Gln
ENST00000676421.1:c.1355T>A	ENSP00000502322.1:p.Leu452Gln
ENST00000263604.5:c.1499T>A	ENSP00000263604.4:p.Leu500Gln
ENST00000371757.6:c.1598T>A	ENSP00000360822.2:p.Leu533Gln
ENST00000460750.5:c.*1208T>A	ENSP00000418777.1:n.*1208T>A
ENST00000486577.6:c.1481T>A	ENSP00000417578.3:p.Leu494Gln
ENST00000487664.5:c.1598T>A	ENSP00000417851.2:p.Leu533Gln
ENST00000488444.6:c.1541T>A	ENSP00000419007.3:p.Leu514Gln
ENST00000490355.6:c.1541T>A	ENSP00000418003.3:p.Leu514Gln
ENST00000490363.3:n.1417T>A
ENST00000491806.6:c.1541T>A	ENSP00000419086.3:p.Leu514Gln
ENST00000628528.2:c.1463T>A	ENSP00000486374.1:p.Leu488Gln
ENST00000630792.2:c.1439T>A	ENSP00000486486.1:p.Leu480Gln
ENST00000631073.2:c.1541T>A	ENSP00000486130.1:p.Leu514Gln
NM_001272003.1:c.1463T>A	NP_001258932.1:p.Leu488Gln
NM_020822.2:c.1598T>A	NP_065873.2:p.Leu533Gln
XM_011518877.1:c.1733T>A	XP_011517179.1:p.Leu578Gln
XM_011518878.1:c.1742T>A	XP_011517180.1:p.Leu581Gln
XM_011518879.1:c.1733T>A	XP_011517181.1:p.Leu578Gln
XM_011518880.1:c.1499T>A	XP_011517182.1:p.Leu500Gln
XM_011518881.1:c.1088T>A	XP_011517183.1:p.Leu363Gln
XM_011518877.3:c.1733T>A	XP_011517179.1:p.Leu578Gln
XM_011518878.3:c.1742T>A	XP_011517180.1:p.Leu581Gln
XM_011518879.3:c.1733T>A	XP_011517181.1:p.Leu578Gln
XM_011518881.3:c.1088T>A	XP_011517183.1:p.Leu363Gln
XM_017014931.1:c.1532T>A	XP_016870420.1:p.Leu511Gln
XM_017014932.1:c.1355T>A	XP_016870421.1:p.Leu452Gln
XM_017014933.1:c.1088T>A	XP_016870422.1:p.Leu363Gln
XM_024447617.1:c.1088T>A	XP_024303385.1:p.Leu363Gln
XM_024447618.1:c.1088T>A	XP_024303386.1:p.Leu363Gln
NM_020822.3:c.1598T>A MANE Select	NP_065873.2:p.Leu533Gln
NM_001272003.2:c.1463T>A	NP_001258932.1:p.Leu488Gln