Canonical Allele Identifier: CA375506859

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 1433068
• ClinVar RCV Id: RCV001944237
• dbSNP Id: rs2131508404
• MyVariant Identifiers: chr9:g.138662284C>T (hg19) ; chr9:g.135770438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770438C>T , CM000671.2:g.135770438C>T	GRCh38
NC_000009.11:g.138662284C>T , CM000671.1:g.138662284C>T	GRCh37
NC_000009.10:g.137802105C>T	NCBI36
NG_033070.1:g.73254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1760C>T MANE Select	ENSP00000360822.2:p.Ala587Val
ENST00000674572.1:c.1601C>T	ENSP00000501742.1:p.Ala534Val
ENST00000675090.1:c.1508C>T	ENSP00000501833.1:p.Ala503Val
ENST00000675399.1:c.1508C>T	ENSP00000501932.1:p.Ala503Val
ENST00000676421.1:c.1517C>T	ENSP00000502322.1:p.Ala506Val
ENST00000263604.5:c.1661C>T	ENSP00000263604.4:p.Ala554Val
ENST00000371757.6:c.1760C>T	ENSP00000360822.2:p.Ala587Val
ENST00000460750.5:c.*1370C>T	ENSP00000418777.1:n.*1370C>T
ENST00000486577.6:c.1643C>T	ENSP00000417578.3:p.Ala548Val
ENST00000487664.5:c.1760C>T	ENSP00000417851.2:p.Ala587Val
ENST00000488444.6:c.1703C>T	ENSP00000419007.3:p.Ala568Val
ENST00000490355.6:c.1703C>T	ENSP00000418003.3:p.Ala568Val
ENST00000490363.3:n.1579C>T
ENST00000491806.6:c.1703C>T	ENSP00000419086.3:p.Ala568Val
ENST00000628528.2:c.1625C>T	ENSP00000486374.1:p.Ala542Val
ENST00000630792.2:c.1601C>T	ENSP00000486486.1:p.Ala534Val
ENST00000631073.2:c.1703C>T	ENSP00000486130.1:p.Ala568Val
NM_001272003.1:c.1625C>T	NP_001258932.1:p.Ala542Val
NM_020822.2:c.1760C>T	NP_065873.2:p.Ala587Val
XM_011518877.1:c.1895C>T	XP_011517179.1:p.Ala632Val
XM_011518878.1:c.1904C>T	XP_011517180.1:p.Ala635Val
XM_011518879.1:c.1895C>T	XP_011517181.1:p.Ala632Val
XM_011518880.1:c.1661C>T	XP_011517182.1:p.Ala554Val
XM_011518881.1:c.1250C>T	XP_011517183.1:p.Ala417Val
XM_011518877.3:c.1895C>T	XP_011517179.1:p.Ala632Val
XM_011518878.3:c.1904C>T	XP_011517180.1:p.Ala635Val
XM_011518879.3:c.1895C>T	XP_011517181.1:p.Ala632Val
XM_011518881.3:c.1250C>T	XP_011517183.1:p.Ala417Val
XM_017014931.1:c.1694C>T	XP_016870420.1:p.Ala565Val
XM_017014932.1:c.1517C>T	XP_016870421.1:p.Ala506Val
XM_017014933.1:c.1250C>T	XP_016870422.1:p.Ala417Val
XM_024447617.1:c.1250C>T	XP_024303385.1:p.Ala417Val
XM_024447618.1:c.1250C>T	XP_024303386.1:p.Ala417Val
NM_020822.3:c.1760C>T MANE Select	NP_065873.2:p.Ala587Val
NM_001272003.2:c.1625C>T	NP_001258932.1:p.Ala542Val