Canonical Allele Identifier: CA375512565

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 813756
• ClinVar RCV Id: RCV001004694
• MyVariant Identifiers: chr9:g.138667253C>G (hg19) ; chr9:g.135775407C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775407C>G , CM000671.2:g.135775407C>G	GRCh38
NC_000009.11:g.138667253C>G , CM000671.1:g.138667253C>G	GRCh37
NC_000009.10:g.137807074C>G	NCBI36
NG_033070.1:g.78223C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2341C>G MANE Select	ENSP00000360822.2:p.Leu781Val
ENST00000674572.1:c.2182C>G	ENSP00000501742.1:p.Leu728Val
ENST00000675090.1:c.2089C>G	ENSP00000501833.1:p.Leu697Val
ENST00000675399.1:c.2089C>G	ENSP00000501932.1:p.Leu697Val
ENST00000676421.1:c.2098C>G	ENSP00000502322.1:p.Leu700Val
ENST00000263604.5:c.2242C>G	ENSP00000263604.4:p.Leu748Val
ENST00000371757.6:c.2341C>G	ENSP00000360822.2:p.Leu781Val
ENST00000460750.5:c.*1951C>G	ENSP00000418777.1:n.*1951C>G
ENST00000486577.6:c.2224C>G	ENSP00000417578.3:p.Leu742Val
ENST00000487664.5:c.2341C>G	ENSP00000417851.2:p.Leu781Val
ENST00000488444.6:c.2284C>G	ENSP00000419007.3:p.Leu762Val
ENST00000490355.6:c.2278C>G	ENSP00000418003.3:p.Leu760Val
ENST00000490363.3:n.2160C>G
ENST00000491806.6:c.2284C>G	ENSP00000419086.3:p.Leu762Val
ENST00000628528.2:c.2206C>G	ENSP00000486374.1:p.Leu736Val
ENST00000630792.2:c.2176C>G	ENSP00000486486.1:p.Leu726Val
ENST00000631073.2:c.2284C>G	ENSP00000486130.1:p.Leu762Val
ENST00000631193.1:c.190C>G	ENSP00000486830.1:p.Leu64Val
NM_001272003.1:c.2206C>G	NP_001258932.1:p.Leu736Val
NM_020822.2:c.2341C>G	NP_065873.2:p.Leu781Val
XM_011518877.1:c.2476C>G	XP_011517179.1:p.Leu826Val
XM_011518878.1:c.2485C>G	XP_011517180.1:p.Leu829Val
XM_011518879.1:c.2476C>G	XP_011517181.1:p.Leu826Val
XM_011518880.1:c.2242C>G	XP_011517182.1:p.Leu748Val
XM_011518881.1:c.1831C>G	XP_011517183.1:p.Leu611Val
XM_011518877.3:c.2476C>G	XP_011517179.1:p.Leu826Val
XM_011518878.3:c.2485C>G	XP_011517180.1:p.Leu829Val
XM_011518879.3:c.2476C>G	XP_011517181.1:p.Leu826Val
XM_011518881.3:c.1831C>G	XP_011517183.1:p.Leu611Val
XM_017014931.1:c.2275C>G	XP_016870420.1:p.Leu759Val
XM_017014932.1:c.2098C>G	XP_016870421.1:p.Leu700Val
XM_017014933.1:c.1831C>G	XP_016870422.1:p.Leu611Val
XM_024447617.1:c.1831C>G	XP_024303385.1:p.Leu611Val
XM_024447618.1:c.1831C>G	XP_024303386.1:p.Leu611Val
NM_020822.3:c.2341C>G MANE Select	NP_065873.2:p.Leu781Val
NM_001272003.2:c.2206C>G	NP_001258932.1:p.Leu736Val