Canonical Allele Identifier: CA375506439

Gene: KCNT1

Linked Data

• COSMIC: COSM3848025 ; COSM3848026
• MyVariant Identifiers: chr9:g.138662203A>G (hg19) ; chr9:g.135770357A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770357A>G , CM000671.2:g.135770357A>G	GRCh38
NC_000009.11:g.138662203A>G , CM000671.1:g.138662203A>G	GRCh37
NC_000009.10:g.137802024A>G	NCBI36
NG_033070.1:g.73173A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1679A>G MANE Select	ENSP00000360822.2:p.Glu560Gly
ENST00000674572.1:c.1520A>G	ENSP00000501742.1:p.Glu507Gly
ENST00000675090.1:c.1427A>G	ENSP00000501833.1:p.Glu476Gly
ENST00000675399.1:c.1427A>G	ENSP00000501932.1:p.Glu476Gly
ENST00000676421.1:c.1436A>G	ENSP00000502322.1:p.Glu479Gly
ENST00000263604.5:c.1580A>G	ENSP00000263604.4:p.Glu527Gly
ENST00000371757.6:c.1679A>G	ENSP00000360822.2:p.Glu560Gly
ENST00000460750.5:c.*1289A>G	ENSP00000418777.1:n.*1289A>G
ENST00000486577.6:c.1562A>G	ENSP00000417578.3:p.Glu521Gly
ENST00000487664.5:c.1679A>G	ENSP00000417851.2:p.Glu560Gly
ENST00000488444.6:c.1622A>G	ENSP00000419007.3:p.Glu541Gly
ENST00000490355.6:c.1622A>G	ENSP00000418003.3:p.Glu541Gly
ENST00000490363.3:n.1498A>G
ENST00000491806.6:c.1622A>G	ENSP00000419086.3:p.Glu541Gly
ENST00000628528.2:c.1544A>G	ENSP00000486374.1:p.Glu515Gly
ENST00000630792.2:c.1520A>G	ENSP00000486486.1:p.Glu507Gly
ENST00000631073.2:c.1622A>G	ENSP00000486130.1:p.Glu541Gly
NM_001272003.1:c.1544A>G	NP_001258932.1:p.Glu515Gly
NM_020822.2:c.1679A>G	NP_065873.2:p.Glu560Gly
XM_011518877.1:c.1814A>G	XP_011517179.1:p.Glu605Gly
XM_011518878.1:c.1823A>G	XP_011517180.1:p.Glu608Gly
XM_011518879.1:c.1814A>G	XP_011517181.1:p.Glu605Gly
XM_011518880.1:c.1580A>G	XP_011517182.1:p.Glu527Gly
XM_011518881.1:c.1169A>G	XP_011517183.1:p.Glu390Gly
XM_011518877.3:c.1814A>G	XP_011517179.1:p.Glu605Gly
XM_011518878.3:c.1823A>G	XP_011517180.1:p.Glu608Gly
XM_011518879.3:c.1814A>G	XP_011517181.1:p.Glu605Gly
XM_011518881.3:c.1169A>G	XP_011517183.1:p.Glu390Gly
XM_017014931.1:c.1613A>G	XP_016870420.1:p.Glu538Gly
XM_017014932.1:c.1436A>G	XP_016870421.1:p.Glu479Gly
XM_017014933.1:c.1169A>G	XP_016870422.1:p.Glu390Gly
XM_024447617.1:c.1169A>G	XP_024303385.1:p.Glu390Gly
XM_024447618.1:c.1169A>G	XP_024303386.1:p.Glu390Gly
NM_020822.3:c.1679A>G MANE Select	NP_065873.2:p.Glu560Gly
NM_001272003.2:c.1544A>G	NP_001258932.1:p.Glu515Gly