Canonical Allele Identifier: CA375512496

Gene: KCNT1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2330G>A MANE Select	ENSP00000360822.2:p.Cys777Tyr
ENST00000674572.1:c.2171G>A	ENSP00000501742.1:p.Cys724Tyr
ENST00000675090.1:c.2078G>A	ENSP00000501833.1:p.Cys693Tyr
ENST00000675399.1:c.2078G>A	ENSP00000501932.1:p.Cys693Tyr
ENST00000676421.1:c.2087G>A	ENSP00000502322.1:p.Cys696Tyr
ENST00000263604.5:c.2231G>A	ENSP00000263604.4:p.Cys744Tyr
ENST00000371757.6:c.2330G>A	ENSP00000360822.2:p.Cys777Tyr
ENST00000460750.5:c.*1940G>A	ENSP00000418777.1:n.*1940G>A
ENST00000486577.6:c.2213G>A	ENSP00000417578.3:p.Cys738Tyr
ENST00000487664.5:c.2330G>A	ENSP00000417851.2:p.Cys777Tyr
ENST00000488444.6:c.2273G>A	ENSP00000419007.3:p.Cys758Tyr
ENST00000490355.6:c.2267G>A	ENSP00000418003.3:p.Cys756Tyr
ENST00000490363.3:n.2149G>A
ENST00000491806.6:c.2273G>A	ENSP00000419086.3:p.Cys758Tyr
ENST00000628528.2:c.2195G>A	ENSP00000486374.1:p.Cys732Tyr
ENST00000630792.2:c.2165G>A	ENSP00000486486.1:p.Cys722Tyr
ENST00000631073.2:c.2273G>A	ENSP00000486130.1:p.Cys758Tyr
ENST00000631193.1:c.179G>A	ENSP00000486830.1:p.Cys60Tyr
NM_001272003.1:c.2195G>A	NP_001258932.1:p.Cys732Tyr
NM_020822.2:c.2330G>A	NP_065873.2:p.Cys777Tyr
XM_011518877.1:c.2465G>A	XP_011517179.1:p.Cys822Tyr
XM_011518878.1:c.2474G>A	XP_011517180.1:p.Cys825Tyr
XM_011518879.1:c.2465G>A	XP_011517181.1:p.Cys822Tyr
XM_011518880.1:c.2231G>A	XP_011517182.1:p.Cys744Tyr
XM_011518881.1:c.1820G>A	XP_011517183.1:p.Cys607Tyr
XM_011518877.3:c.2465G>A	XP_011517179.1:p.Cys822Tyr
XM_011518878.3:c.2474G>A	XP_011517180.1:p.Cys825Tyr
XM_011518879.3:c.2465G>A	XP_011517181.1:p.Cys822Tyr
XM_011518881.3:c.1820G>A	XP_011517183.1:p.Cys607Tyr
XM_017014931.1:c.2264G>A	XP_016870420.1:p.Cys755Tyr
XM_017014932.1:c.2087G>A	XP_016870421.1:p.Cys696Tyr
XM_017014933.1:c.1820G>A	XP_016870422.1:p.Cys607Tyr
XM_024447617.1:c.1820G>A	XP_024303385.1:p.Cys607Tyr
XM_024447618.1:c.1820G>A	XP_024303386.1:p.Cys607Tyr
NM_020822.3:c.2330G>A MANE Select	NP_065873.2:p.Cys777Tyr
NM_001272003.2:c.2195G>A	NP_001258932.1:p.Cys732Tyr