Canonical Allele Identifier: CA2692518800

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2923640
• ClinVar RCV Id: RCV003783198
• gnomAD v4: 9-135775434-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775434C>T , CM000671.2:g.135775434C>T	GRCh38
NC_000009.11:g.138667280C>T , CM000671.1:g.138667280C>T	GRCh37
NC_000009.10:g.137807101C>T	NCBI36
NG_033070.1:g.78250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2349+19C>T MANE Select	ENSP00000360822.2:n.2349+19C>T
ENST00000674572.1:c.2190+19C>T	ENSP00000501742.1:n.2190+19C>T
ENST00000675090.1:c.2097+19C>T	ENSP00000501833.1:n.2097+19C>T
ENST00000675399.1:c.2097+19C>T	ENSP00000501932.1:n.2097+19C>T
ENST00000676421.1:c.2106+19C>T	ENSP00000502322.1:n.2106+19C>T
ENST00000263604.5:c.2250+19C>T	ENSP00000263604.4:n.2250+19C>T
ENST00000371757.6:c.2349+19C>T	ENSP00000360822.2:n.2349+19C>T
ENST00000460750.5:c.*1959+19C>T	ENSP00000418777.1:n.*1959+19C>T
ENST00000486577.6:c.2232+19C>T	ENSP00000417578.3:n.2232+19C>T
ENST00000487664.5:c.2349+19C>T	ENSP00000417851.2:n.2349+19C>T
ENST00000488444.6:c.2292+19C>T	ENSP00000419007.3:n.2292+19C>T
ENST00000490355.6:c.2286+19C>T	ENSP00000418003.3:n.2286+19C>T
ENST00000490363.3:n.2168+19C>T
ENST00000491806.6:c.2292+19C>T	ENSP00000419086.3:n.2292+19C>T
ENST00000628528.2:c.2214+19C>T	ENSP00000486374.1:n.2214+19C>T
ENST00000630792.2:c.2184+19C>T	ENSP00000486486.1:n.2184+19C>T
ENST00000631073.2:c.2292+19C>T	ENSP00000486130.1:n.2292+19C>T
ENST00000631193.1:c.198+19C>T	ENSP00000486830.1:n.198+19C>T
NM_001272003.1:c.2214+19C>T	NP_001258932.1:n.2214+19C>T
NM_020822.2:c.2349+19C>T	NP_065873.2:n.2349+19C>T
XM_011518877.1:c.2484+19C>T	XP_011517179.1:n.2484+19C>T
XM_011518878.1:c.2493+19C>T	XP_011517180.1:n.2493+19C>T
XM_011518879.1:c.2484+19C>T	XP_011517181.1:n.2484+19C>T
XM_011518880.1:c.2250+19C>T	XP_011517182.1:n.2250+19C>T
XM_011518881.1:c.1839+19C>T	XP_011517183.1:n.1839+19C>T
XM_011518877.3:c.2484+19C>T	XP_011517179.1:n.2484+19C>T
XM_011518878.3:c.2493+19C>T	XP_011517180.1:n.2493+19C>T
XM_011518879.3:c.2484+19C>T	XP_011517181.1:n.2484+19C>T
XM_011518881.3:c.1839+19C>T	XP_011517183.1:n.1839+19C>T
XM_017014931.1:c.2283+19C>T	XP_016870420.1:n.2283+19C>T
XM_017014932.1:c.2106+19C>T	XP_016870421.1:n.2106+19C>T
XM_017014933.1:c.1839+19C>T	XP_016870422.1:n.1839+19C>T
XM_024447617.1:c.1839+19C>T	XP_024303385.1:n.1839+19C>T
XM_024447618.1:c.1839+19C>T	XP_024303386.1:n.1839+19C>T
NM_020822.3:c.2349+19C>T MANE Select	NP_065873.2:n.2349+19C>T
NM_001272003.2:c.2214+19C>T	NP_001258932.1:n.2214+19C>T