Canonical Allele Identifier: CA375494767

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138641980C>A (hg19) ; chr9:g.135750134C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750134C>A , CM000671.2:g.135750134C>A	GRCh38
NC_000009.11:g.138641980C>A , CM000671.1:g.138641980C>A	GRCh37
NC_000009.10:g.137781801C>A	NCBI36
NG_033070.1:g.52950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.291C>A MANE Select	ENSP00000360822.2:p.Phe97Leu
ENST00000637018.1:n.96C>A
ENST00000638123.1:n.26C>A
ENST00000674572.1:c.132C>A	ENSP00000501742.1:p.Phe44Leu
ENST00000675090.1:c.39C>A	ENSP00000501833.1:p.Phe13Leu
ENST00000675399.1:c.39C>A	ENSP00000501932.1:p.Phe13Leu
ENST00000676421.1:c.39C>A	ENSP00000502322.1:p.Phe13Leu
ENST00000263604.5:c.192C>A	ENSP00000263604.4:p.Phe64Leu
ENST00000371757.6:c.291C>A	ENSP00000360822.2:p.Phe97Leu
ENST00000460750.5:c.291C>A	ENSP00000418777.1:p.Phe97Leu
ENST00000473941.5:c.132C>A	ENSP00000420764.1:p.Phe44Leu
ENST00000486577.6:c.174C>A	ENSP00000417578.3:p.Phe58Leu
ENST00000487664.5:c.291C>A	ENSP00000417851.2:p.Phe97Leu
ENST00000488444.6:c.234C>A	ENSP00000419007.3:p.Phe78Leu
ENST00000490355.6:c.234C>A	ENSP00000418003.3:p.Phe78Leu
ENST00000491806.6:c.234C>A	ENSP00000419086.3:p.Phe78Leu
ENST00000628528.2:c.147C>A	ENSP00000486374.1:p.Phe49Leu
ENST00000630792.2:c.132C>A	ENSP00000486486.1:p.Phe44Leu
ENST00000631073.2:c.234C>A	ENSP00000486130.1:p.Phe78Leu
NM_001272003.1:c.147C>A	NP_001258932.1:p.Phe49Leu
NM_020822.2:c.291C>A	NP_065873.2:p.Phe97Leu
XM_011518877.1:c.426C>A	XP_011517179.1:p.Phe142Leu
XM_011518878.1:c.426C>A	XP_011517180.1:p.Phe142Leu
XM_011518879.1:c.426C>A	XP_011517181.1:p.Phe142Leu
XM_011518880.1:c.192C>A	XP_011517182.1:p.Phe64Leu
XM_011518877.3:c.426C>A	XP_011517179.1:p.Phe142Leu
XM_011518878.3:c.426C>A	XP_011517180.1:p.Phe142Leu
XM_011518879.3:c.426C>A	XP_011517181.1:p.Phe142Leu
XM_017014931.1:c.316C>A	XP_016870420.1:p.Gln106Lys
XM_017014932.1:c.39C>A	XP_016870421.1:p.Phe13Leu
XM_017014933.1:c.-129C>A	XP_016870422.1:n.-129C>A
XM_024447617.1:c.-229C>A	XP_024303385.1:n.-229C>A
XM_024447618.1:c.-229C>A	XP_024303386.1:n.-229C>A
NM_020822.3:c.291C>A MANE Select	NP_065873.2:p.Phe97Leu
NM_001272003.2:c.147C>A	NP_001258932.1:p.Phe49Leu