Canonical Allele Identifier: CA375499819

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138656886C>T (hg19) ; chr9:g.135765040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765040C>T , CM000671.2:g.135765040C>T	GRCh38
NC_000009.11:g.138656886C>T , CM000671.1:g.138656886C>T	GRCh37
NC_000009.10:g.137796707C>T	NCBI36
NG_033070.1:g.67856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1045C>T MANE Select	ENSP00000360822.2:p.Leu349Phe
ENST00000674572.1:c.886C>T	ENSP00000501742.1:p.Leu296Phe
ENST00000675090.1:c.793C>T	ENSP00000501833.1:p.Leu265Phe
ENST00000675399.1:c.793C>T	ENSP00000501932.1:p.Leu265Phe
ENST00000676421.1:c.802C>T	ENSP00000502322.1:p.Leu268Phe
ENST00000263604.5:c.946C>T	ENSP00000263604.4:p.Leu316Phe
ENST00000371757.6:c.1045C>T	ENSP00000360822.2:p.Leu349Phe
ENST00000460750.5:c.*655C>T	ENSP00000418777.1:n.*655C>T
ENST00000486577.6:c.928C>T	ENSP00000417578.3:p.Leu310Phe
ENST00000487664.5:c.1045C>T	ENSP00000417851.2:p.Leu349Phe
ENST00000488444.6:c.988C>T	ENSP00000419007.3:p.Leu330Phe
ENST00000490355.6:c.988C>T	ENSP00000418003.3:p.Leu330Phe
ENST00000490363.3:n.864C>T
ENST00000491806.6:c.988C>T	ENSP00000419086.3:p.Leu330Phe
ENST00000628528.2:c.910C>T	ENSP00000486374.1:p.Leu304Phe
ENST00000630792.2:c.886C>T	ENSP00000486486.1:p.Leu296Phe
ENST00000631073.2:c.988C>T	ENSP00000486130.1:p.Leu330Phe
NM_001272003.1:c.910C>T	NP_001258932.1:p.Leu304Phe
NM_020822.2:c.1045C>T	NP_065873.2:p.Leu349Phe
XM_011518877.1:c.1180C>T	XP_011517179.1:p.Leu394Phe
XM_011518878.1:c.1189C>T	XP_011517180.1:p.Leu397Phe
XM_011518879.1:c.1180C>T	XP_011517181.1:p.Leu394Phe
XM_011518880.1:c.946C>T	XP_011517182.1:p.Leu316Phe
XM_011518881.1:c.535C>T	XP_011517183.1:p.Leu179Phe
XM_011518877.3:c.1180C>T	XP_011517179.1:p.Leu394Phe
XM_011518878.3:c.1189C>T	XP_011517180.1:p.Leu397Phe
XM_011518879.3:c.1180C>T	XP_011517181.1:p.Leu394Phe
XM_011518881.3:c.535C>T	XP_011517183.1:p.Leu179Phe
XM_017014931.1:c.979C>T	XP_016870420.1:p.Leu327Phe
XM_017014932.1:c.802C>T	XP_016870421.1:p.Leu268Phe
XM_017014933.1:c.535C>T	XP_016870422.1:p.Leu179Phe
XM_024447617.1:c.535C>T	XP_024303385.1:p.Leu179Phe
XM_024447618.1:c.535C>T	XP_024303386.1:p.Leu179Phe
NM_020822.3:c.1045C>T MANE Select	NP_065873.2:p.Leu349Phe
NM_001272003.2:c.910C>T	NP_001258932.1:p.Leu304Phe