Canonical Allele Identifier: CA375512342

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667220C>G (hg19) ; chr9:g.135775374C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775374C>G , CM000671.2:g.135775374C>G	GRCh38
NC_000009.11:g.138667220C>G , CM000671.1:g.138667220C>G	GRCh37
NC_000009.10:g.137807041C>G	NCBI36
NG_033070.1:g.78190C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2308C>G MANE Select	ENSP00000360822.2:p.Leu770Val
ENST00000674572.1:c.2149C>G	ENSP00000501742.1:p.Leu717Val
ENST00000675090.1:c.2056C>G	ENSP00000501833.1:p.Leu686Val
ENST00000675399.1:c.2056C>G	ENSP00000501932.1:p.Leu686Val
ENST00000676421.1:c.2065C>G	ENSP00000502322.1:p.Leu689Val
ENST00000263604.5:c.2209C>G	ENSP00000263604.4:p.Leu737Val
ENST00000371757.6:c.2308C>G	ENSP00000360822.2:p.Leu770Val
ENST00000460750.5:c.*1918C>G	ENSP00000418777.1:n.*1918C>G
ENST00000486577.6:c.2191C>G	ENSP00000417578.3:p.Leu731Val
ENST00000487664.5:c.2308C>G	ENSP00000417851.2:p.Leu770Val
ENST00000488444.6:c.2251C>G	ENSP00000419007.3:p.Leu751Val
ENST00000490355.6:c.2245C>G	ENSP00000418003.3:p.Leu749Val
ENST00000490363.3:n.2127C>G
ENST00000491806.6:c.2251C>G	ENSP00000419086.3:p.Leu751Val
ENST00000628528.2:c.2173C>G	ENSP00000486374.1:p.Leu725Val
ENST00000630792.2:c.2143C>G	ENSP00000486486.1:p.Leu715Val
ENST00000631073.2:c.2251C>G	ENSP00000486130.1:p.Leu751Val
ENST00000631193.1:c.157C>G	ENSP00000486830.1:p.Leu53Val
NM_001272003.1:c.2173C>G	NP_001258932.1:p.Leu725Val
NM_020822.2:c.2308C>G	NP_065873.2:p.Leu770Val
XM_011518877.1:c.2443C>G	XP_011517179.1:p.Leu815Val
XM_011518878.1:c.2452C>G	XP_011517180.1:p.Leu818Val
XM_011518879.1:c.2443C>G	XP_011517181.1:p.Leu815Val
XM_011518880.1:c.2209C>G	XP_011517182.1:p.Leu737Val
XM_011518881.1:c.1798C>G	XP_011517183.1:p.Leu600Val
XM_011518877.3:c.2443C>G	XP_011517179.1:p.Leu815Val
XM_011518878.3:c.2452C>G	XP_011517180.1:p.Leu818Val
XM_011518879.3:c.2443C>G	XP_011517181.1:p.Leu815Val
XM_011518881.3:c.1798C>G	XP_011517183.1:p.Leu600Val
XM_017014931.1:c.2242C>G	XP_016870420.1:p.Leu748Val
XM_017014932.1:c.2065C>G	XP_016870421.1:p.Leu689Val
XM_017014933.1:c.1798C>G	XP_016870422.1:p.Leu600Val
XM_024447617.1:c.1798C>G	XP_024303385.1:p.Leu600Val
XM_024447618.1:c.1798C>G	XP_024303386.1:p.Leu600Val
NM_020822.3:c.2308C>G MANE Select	NP_065873.2:p.Leu770Val
NM_001272003.2:c.2173C>G	NP_001258932.1:p.Leu725Val