Canonical Allele Identifier: CA5327048

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 1621582
• ClinVar RCV Id: RCV002094227
• dbSNP Id: rs142760483
• ExAC: 9:138662282 C / T
• gnomAD v2: 9-138662282-C-T
• gnomAD v3: 9-135770436-C-T
• gnomAD v4: 9-135770436-C-T
• MyVariant Identifiers: chr9:g.138662282C>T (hg19) ; chr9:g.135770436C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770436C>T , CM000671.2:g.135770436C>T	GRCh38
NC_000009.11:g.138662282C>T , CM000671.1:g.138662282C>T	GRCh37
NC_000009.10:g.137802103C>T	NCBI36
NG_033070.1:g.73252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1758C>T MANE Select	ENSP00000360822.2:p.His586=
ENST00000674572.1:c.1599C>T	ENSP00000501742.1:p.His533=
ENST00000675090.1:c.1506C>T	ENSP00000501833.1:p.His502=
ENST00000675399.1:c.1506C>T	ENSP00000501932.1:p.His502=
ENST00000676421.1:c.1515C>T	ENSP00000502322.1:p.His505=
ENST00000263604.5:c.1659C>T	ENSP00000263604.4:p.His553=
ENST00000371757.6:c.1758C>T	ENSP00000360822.2:p.His586=
ENST00000460750.5:c.*1368C>T	ENSP00000418777.1:n.*1368C>T
ENST00000486577.6:c.1641C>T	ENSP00000417578.3:p.His547=
ENST00000487664.5:c.1758C>T	ENSP00000417851.2:p.His586=
ENST00000488444.6:c.1701C>T	ENSP00000419007.3:p.His567=
ENST00000490355.6:c.1701C>T	ENSP00000418003.3:p.His567=
ENST00000490363.3:n.1577C>T
ENST00000491806.6:c.1701C>T	ENSP00000419086.3:p.His567=
ENST00000628528.2:c.1623C>T	ENSP00000486374.1:p.His541=
ENST00000630792.2:c.1599C>T	ENSP00000486486.1:p.His533=
ENST00000631073.2:c.1701C>T	ENSP00000486130.1:p.His567=
NM_001272003.1:c.1623C>T	NP_001258932.1:p.His541=
NM_020822.2:c.1758C>T	NP_065873.2:p.His586=
XM_011518877.1:c.1893C>T	XP_011517179.1:p.His631=
XM_011518878.1:c.1902C>T	XP_011517180.1:p.His634=
XM_011518879.1:c.1893C>T	XP_011517181.1:p.His631=
XM_011518880.1:c.1659C>T	XP_011517182.1:p.His553=
XM_011518881.1:c.1248C>T	XP_011517183.1:p.His416=
XM_011518877.3:c.1893C>T	XP_011517179.1:p.His631=
XM_011518878.3:c.1902C>T	XP_011517180.1:p.His634=
XM_011518879.3:c.1893C>T	XP_011517181.1:p.His631=
XM_011518881.3:c.1248C>T	XP_011517183.1:p.His416=
XM_017014931.1:c.1692C>T	XP_016870420.1:p.His564=
XM_017014932.1:c.1515C>T	XP_016870421.1:p.His505=
XM_017014933.1:c.1248C>T	XP_016870422.1:p.His416=
XM_024447617.1:c.1248C>T	XP_024303385.1:p.His416=
XM_024447618.1:c.1248C>T	XP_024303386.1:p.His416=
NM_020822.3:c.1758C>T MANE Select	NP_065873.2:p.His586=
NM_001272003.2:c.1623C>T	NP_001258932.1:p.His541=