Canonical Allele Identifier: CA467698195

Gene: KCNT1

Linked Data

• COSMIC: COSM4525284 ; COSM4525285
• MyVariant Identifiers: chr9:g.138657589G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765743G>A , CM000671.2:g.135765743G>A	GRCh38
NC_000009.11:g.138657589G>A , CM000671.1:g.138657589G>A	GRCh37
NC_000009.10:g.137797410G>A	NCBI36
NG_033070.1:g.68559G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1320G>A MANE Select	ENSP00000360822.2:p.Gln440=
ENST00000636003.1:c.10G>A
ENST00000636995.1:n.47G>A
ENST00000637798.1:n.59G>A
ENST00000674572.1:c.1161G>A	ENSP00000501742.1:p.Gln387=
ENST00000675090.1:c.1068G>A	ENSP00000501833.1:p.Gln356=
ENST00000675399.1:c.1068G>A	ENSP00000501932.1:p.Gln356=
ENST00000676421.1:c.1077G>A	ENSP00000502322.1:p.Gln359=
ENST00000263604.5:c.1221G>A	ENSP00000263604.4:p.Gln407=
ENST00000371757.6:c.1320G>A	ENSP00000360822.2:p.Gln440=
ENST00000460750.5:c.*930G>A	ENSP00000418777.1:n.*930G>A
ENST00000486577.6:c.1203G>A	ENSP00000417578.3:p.Gln401=
ENST00000487664.5:c.1320G>A	ENSP00000417851.2:p.Gln440=
ENST00000488444.6:c.1263G>A	ENSP00000419007.3:p.Gln421=
ENST00000490355.6:c.1263G>A	ENSP00000418003.3:p.Gln421=
ENST00000490363.3:n.1139G>A
ENST00000491806.6:c.1263G>A	ENSP00000419086.3:p.Gln421=
ENST00000628528.2:c.1185G>A	ENSP00000486374.1:p.Gln395=
ENST00000630792.2:c.1161G>A	ENSP00000486486.1:p.Gln387=
ENST00000631073.2:c.1263G>A	ENSP00000486130.1:p.Gln421=
NM_001272003.1:c.1185G>A	NP_001258932.1:p.Gln395=
NM_020822.2:c.1320G>A	NP_065873.2:p.Gln440=
XM_011518877.1:c.1455G>A	XP_011517179.1:p.Gln485=
XM_011518878.1:c.1464G>A	XP_011517180.1:p.Gln488=
XM_011518879.1:c.1455G>A	XP_011517181.1:p.Gln485=
XM_011518880.1:c.1221G>A	XP_011517182.1:p.Gln407=
XM_011518881.1:c.810G>A	XP_011517183.1:p.Gln270=
XM_011518877.3:c.1455G>A	XP_011517179.1:p.Gln485=
XM_011518878.3:c.1464G>A	XP_011517180.1:p.Gln488=
XM_011518879.3:c.1455G>A	XP_011517181.1:p.Gln485=
XM_011518881.3:c.810G>A	XP_011517183.1:p.Gln270=
XM_017014931.1:c.1254G>A	XP_016870420.1:p.Gln418=
XM_017014932.1:c.1077G>A	XP_016870421.1:p.Gln359=
XM_017014933.1:c.810G>A	XP_016870422.1:p.Gln270=
XM_024447617.1:c.810G>A	XP_024303385.1:p.Gln270=
XM_024447618.1:c.810G>A	XP_024303386.1:p.Gln270=
NM_020822.3:c.1320G>A MANE Select	NP_065873.2:p.Gln440=
NM_001272003.2:c.1185G>A	NP_001258932.1:p.Gln395=