Canonical Allele Identifier: CA375505974

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 1525298
• ClinVar RCV Id: RCV002036575 ; RCV003134371
• dbSNP Id: rs753874335
• gnomAD v3: 9-135770013-C-T
• gnomAD v4: 9-135770013-C-T
• MyVariant Identifiers: chr9:g.138661859C>T (hg19) ; chr9:g.135770013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770013C>T , CM000671.2:g.135770013C>T	GRCh38
NC_000009.11:g.138661859C>T , CM000671.1:g.138661859C>T	GRCh37
NC_000009.10:g.137801680C>T	NCBI36
NG_033070.1:g.72829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1577C>T MANE Select	ENSP00000360822.2:p.Thr526Ile
ENST00000674572.1:c.1418C>T	ENSP00000501742.1:p.Thr473Ile
ENST00000675090.1:c.1325C>T	ENSP00000501833.1:p.Thr442Ile
ENST00000675399.1:c.1325C>T	ENSP00000501932.1:p.Thr442Ile
ENST00000676421.1:c.1334C>T	ENSP00000502322.1:p.Thr445Ile
ENST00000263604.5:c.1478C>T	ENSP00000263604.4:p.Thr493Ile
ENST00000371757.6:c.1577C>T	ENSP00000360822.2:p.Thr526Ile
ENST00000460750.5:c.*1187C>T	ENSP00000418777.1:n.*1187C>T
ENST00000486577.6:c.1460C>T	ENSP00000417578.3:p.Thr487Ile
ENST00000487664.5:c.1577C>T	ENSP00000417851.2:p.Thr526Ile
ENST00000488444.6:c.1520C>T	ENSP00000419007.3:p.Thr507Ile
ENST00000490355.6:c.1520C>T	ENSP00000418003.3:p.Thr507Ile
ENST00000490363.3:n.1396C>T
ENST00000491806.6:c.1520C>T	ENSP00000419086.3:p.Thr507Ile
ENST00000628528.2:c.1442C>T	ENSP00000486374.1:p.Thr481Ile
ENST00000630792.2:c.1418C>T	ENSP00000486486.1:p.Thr473Ile
ENST00000631073.2:c.1520C>T	ENSP00000486130.1:p.Thr507Ile
NM_001272003.1:c.1442C>T	NP_001258932.1:p.Thr481Ile
NM_020822.2:c.1577C>T	NP_065873.2:p.Thr526Ile
XM_011518877.1:c.1712C>T	XP_011517179.1:p.Thr571Ile
XM_011518878.1:c.1721C>T	XP_011517180.1:p.Thr574Ile
XM_011518879.1:c.1712C>T	XP_011517181.1:p.Thr571Ile
XM_011518880.1:c.1478C>T	XP_011517182.1:p.Thr493Ile
XM_011518881.1:c.1067C>T	XP_011517183.1:p.Thr356Ile
XM_011518877.3:c.1712C>T	XP_011517179.1:p.Thr571Ile
XM_011518878.3:c.1721C>T	XP_011517180.1:p.Thr574Ile
XM_011518879.3:c.1712C>T	XP_011517181.1:p.Thr571Ile
XM_011518881.3:c.1067C>T	XP_011517183.1:p.Thr356Ile
XM_017014931.1:c.1511C>T	XP_016870420.1:p.Thr504Ile
XM_017014932.1:c.1334C>T	XP_016870421.1:p.Thr445Ile
XM_017014933.1:c.1067C>T	XP_016870422.1:p.Thr356Ile
XM_024447617.1:c.1067C>T	XP_024303385.1:p.Thr356Ile
XM_024447618.1:c.1067C>T	XP_024303386.1:p.Thr356Ile
NM_020822.3:c.1577C>T MANE Select	NP_065873.2:p.Thr526Ile
NM_001272003.2:c.1442C>T	NP_001258932.1:p.Thr481Ile