Canonical Allele Identifier: CA375512488

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667242G>T (hg19) ; chr9:g.135775396G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775396G>T , CM000671.2:g.135775396G>T	GRCh38
NC_000009.11:g.138667242G>T , CM000671.1:g.138667242G>T	GRCh37
NC_000009.10:g.137807063G>T	NCBI36
NG_033070.1:g.78212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2330G>T MANE Select	ENSP00000360822.2:p.Cys777Phe
ENST00000674572.1:c.2171G>T	ENSP00000501742.1:p.Cys724Phe
ENST00000675090.1:c.2078G>T	ENSP00000501833.1:p.Cys693Phe
ENST00000675399.1:c.2078G>T	ENSP00000501932.1:p.Cys693Phe
ENST00000676421.1:c.2087G>T	ENSP00000502322.1:p.Cys696Phe
ENST00000263604.5:c.2231G>T	ENSP00000263604.4:p.Cys744Phe
ENST00000371757.6:c.2330G>T	ENSP00000360822.2:p.Cys777Phe
ENST00000460750.5:c.*1940G>T	ENSP00000418777.1:n.*1940G>T
ENST00000486577.6:c.2213G>T	ENSP00000417578.3:p.Cys738Phe
ENST00000487664.5:c.2330G>T	ENSP00000417851.2:p.Cys777Phe
ENST00000488444.6:c.2273G>T	ENSP00000419007.3:p.Cys758Phe
ENST00000490355.6:c.2267G>T	ENSP00000418003.3:p.Cys756Phe
ENST00000490363.3:n.2149G>T
ENST00000491806.6:c.2273G>T	ENSP00000419086.3:p.Cys758Phe
ENST00000628528.2:c.2195G>T	ENSP00000486374.1:p.Cys732Phe
ENST00000630792.2:c.2165G>T	ENSP00000486486.1:p.Cys722Phe
ENST00000631073.2:c.2273G>T	ENSP00000486130.1:p.Cys758Phe
ENST00000631193.1:c.179G>T	ENSP00000486830.1:p.Cys60Phe
NM_001272003.1:c.2195G>T	NP_001258932.1:p.Cys732Phe
NM_020822.2:c.2330G>T	NP_065873.2:p.Cys777Phe
XM_011518877.1:c.2465G>T	XP_011517179.1:p.Cys822Phe
XM_011518878.1:c.2474G>T	XP_011517180.1:p.Cys825Phe
XM_011518879.1:c.2465G>T	XP_011517181.1:p.Cys822Phe
XM_011518880.1:c.2231G>T	XP_011517182.1:p.Cys744Phe
XM_011518881.1:c.1820G>T	XP_011517183.1:p.Cys607Phe
XM_011518877.3:c.2465G>T	XP_011517179.1:p.Cys822Phe
XM_011518878.3:c.2474G>T	XP_011517180.1:p.Cys825Phe
XM_011518879.3:c.2465G>T	XP_011517181.1:p.Cys822Phe
XM_011518881.3:c.1820G>T	XP_011517183.1:p.Cys607Phe
XM_017014931.1:c.2264G>T	XP_016870420.1:p.Cys755Phe
XM_017014932.1:c.2087G>T	XP_016870421.1:p.Cys696Phe
XM_017014933.1:c.1820G>T	XP_016870422.1:p.Cys607Phe
XM_024447617.1:c.1820G>T	XP_024303385.1:p.Cys607Phe
XM_024447618.1:c.1820G>T	XP_024303386.1:p.Cys607Phe
NM_020822.3:c.2330G>T MANE Select	NP_065873.2:p.Cys777Phe
NM_001272003.2:c.2195G>T	NP_001258932.1:p.Cys732Phe