Canonical Allele Identifier: CA2692518812

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775453-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775453A>G , CM000671.2:g.135775453A>G	GRCh38
NC_000009.11:g.138667299A>G , CM000671.1:g.138667299A>G	GRCh37
NC_000009.10:g.137807120A>G	NCBI36
NG_033070.1:g.78269A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2349+38A>G MANE Select	ENSP00000360822.2:n.2349+38A>G
ENST00000674572.1:c.2190+38A>G	ENSP00000501742.1:n.2190+38A>G
ENST00000675090.1:c.2097+38A>G	ENSP00000501833.1:n.2097+38A>G
ENST00000675399.1:c.2097+38A>G	ENSP00000501932.1:n.2097+38A>G
ENST00000676421.1:c.2106+38A>G	ENSP00000502322.1:n.2106+38A>G
ENST00000263604.5:c.2250+38A>G	ENSP00000263604.4:n.2250+38A>G
ENST00000371757.6:c.2349+38A>G	ENSP00000360822.2:n.2349+38A>G
ENST00000460750.5:c.*1959+38A>G	ENSP00000418777.1:n.*1959+38A>G
ENST00000486577.6:c.2232+38A>G	ENSP00000417578.3:n.2232+38A>G
ENST00000487664.5:c.2349+38A>G	ENSP00000417851.2:n.2349+38A>G
ENST00000488444.6:c.2292+38A>G	ENSP00000419007.3:n.2292+38A>G
ENST00000490355.6:c.2286+38A>G	ENSP00000418003.3:n.2286+38A>G
ENST00000490363.3:n.2168+38A>G
ENST00000491806.6:c.2292+38A>G	ENSP00000419086.3:n.2292+38A>G
ENST00000628528.2:c.2214+38A>G	ENSP00000486374.1:n.2214+38A>G
ENST00000630792.2:c.2184+38A>G	ENSP00000486486.1:n.2184+38A>G
ENST00000631073.2:c.2292+38A>G	ENSP00000486130.1:n.2292+38A>G
ENST00000631193.1:c.198+38A>G	ENSP00000486830.1:n.198+38A>G
NM_001272003.1:c.2214+38A>G	NP_001258932.1:n.2214+38A>G
NM_020822.2:c.2349+38A>G	NP_065873.2:n.2349+38A>G
XM_011518877.1:c.2484+38A>G	XP_011517179.1:n.2484+38A>G
XM_011518878.1:c.2493+38A>G	XP_011517180.1:n.2493+38A>G
XM_011518879.1:c.2484+38A>G	XP_011517181.1:n.2484+38A>G
XM_011518880.1:c.2250+38A>G	XP_011517182.1:n.2250+38A>G
XM_011518881.1:c.1839+38A>G	XP_011517183.1:n.1839+38A>G
XM_011518877.3:c.2484+38A>G	XP_011517179.1:n.2484+38A>G
XM_011518878.3:c.2493+38A>G	XP_011517180.1:n.2493+38A>G
XM_011518879.3:c.2484+38A>G	XP_011517181.1:n.2484+38A>G
XM_011518881.3:c.1839+38A>G	XP_011517183.1:n.1839+38A>G
XM_017014931.1:c.2283+38A>G	XP_016870420.1:n.2283+38A>G
XM_017014932.1:c.2106+38A>G	XP_016870421.1:n.2106+38A>G
XM_017014933.1:c.1839+38A>G	XP_016870422.1:n.1839+38A>G
XM_024447617.1:c.1839+38A>G	XP_024303385.1:n.1839+38A>G
XM_024447618.1:c.1839+38A>G	XP_024303386.1:n.1839+38A>G
NM_020822.3:c.2349+38A>G MANE Select	NP_065873.2:n.2349+38A>G
NM_001272003.2:c.2214+38A>G	NP_001258932.1:n.2214+38A>G