Canonical Allele Identifier: CA375512476

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667240C>A (hg19) ; chr9:g.135775394C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775394C>A , CM000671.2:g.135775394C>A	GRCh38
NC_000009.11:g.138667240C>A , CM000671.1:g.138667240C>A	GRCh37
NC_000009.10:g.137807061C>A	NCBI36
NG_033070.1:g.78210C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2328C>A MANE Select	ENSP00000360822.2:p.Phe776Leu
ENST00000674572.1:c.2169C>A	ENSP00000501742.1:p.Phe723Leu
ENST00000675090.1:c.2076C>A	ENSP00000501833.1:p.Phe692Leu
ENST00000675399.1:c.2076C>A	ENSP00000501932.1:p.Phe692Leu
ENST00000676421.1:c.2085C>A	ENSP00000502322.1:p.Phe695Leu
ENST00000263604.5:c.2229C>A	ENSP00000263604.4:p.Phe743Leu
ENST00000371757.6:c.2328C>A	ENSP00000360822.2:p.Phe776Leu
ENST00000460750.5:c.*1938C>A	ENSP00000418777.1:n.*1938C>A
ENST00000486577.6:c.2211C>A	ENSP00000417578.3:p.Phe737Leu
ENST00000487664.5:c.2328C>A	ENSP00000417851.2:p.Phe776Leu
ENST00000488444.6:c.2271C>A	ENSP00000419007.3:p.Phe757Leu
ENST00000490355.6:c.2265C>A	ENSP00000418003.3:p.Phe755Leu
ENST00000490363.3:n.2147C>A
ENST00000491806.6:c.2271C>A	ENSP00000419086.3:p.Phe757Leu
ENST00000628528.2:c.2193C>A	ENSP00000486374.1:p.Phe731Leu
ENST00000630792.2:c.2163C>A	ENSP00000486486.1:p.Phe721Leu
ENST00000631073.2:c.2271C>A	ENSP00000486130.1:p.Phe757Leu
ENST00000631193.1:c.177C>A	ENSP00000486830.1:p.Phe59Leu
NM_001272003.1:c.2193C>A	NP_001258932.1:p.Phe731Leu
NM_020822.2:c.2328C>A	NP_065873.2:p.Phe776Leu
XM_011518877.1:c.2463C>A	XP_011517179.1:p.Phe821Leu
XM_011518878.1:c.2472C>A	XP_011517180.1:p.Phe824Leu
XM_011518879.1:c.2463C>A	XP_011517181.1:p.Phe821Leu
XM_011518880.1:c.2229C>A	XP_011517182.1:p.Phe743Leu
XM_011518881.1:c.1818C>A	XP_011517183.1:p.Phe606Leu
XM_011518877.3:c.2463C>A	XP_011517179.1:p.Phe821Leu
XM_011518878.3:c.2472C>A	XP_011517180.1:p.Phe824Leu
XM_011518879.3:c.2463C>A	XP_011517181.1:p.Phe821Leu
XM_011518881.3:c.1818C>A	XP_011517183.1:p.Phe606Leu
XM_017014931.1:c.2262C>A	XP_016870420.1:p.Phe754Leu
XM_017014932.1:c.2085C>A	XP_016870421.1:p.Phe695Leu
XM_017014933.1:c.1818C>A	XP_016870422.1:p.Phe606Leu
XM_024447617.1:c.1818C>A	XP_024303385.1:p.Phe606Leu
XM_024447618.1:c.1818C>A	XP_024303386.1:p.Phe606Leu
NM_020822.3:c.2328C>A MANE Select	NP_065873.2:p.Phe776Leu
NM_001272003.2:c.2193C>A	NP_001258932.1:p.Phe731Leu