Canonical Allele Identifier: CA375512303

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775366-G-T
• MyVariant Identifiers: chr9:g.138667212G>T (hg19) ; chr9:g.135775366G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775366G>T , CM000671.2:g.135775366G>T	GRCh38
NC_000009.11:g.138667212G>T , CM000671.1:g.138667212G>T	GRCh37
NC_000009.10:g.137807033G>T	NCBI36
NG_033070.1:g.78182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2300G>T MANE Select	ENSP00000360822.2:p.Cys767Phe
ENST00000674572.1:c.2141G>T	ENSP00000501742.1:p.Cys714Phe
ENST00000675090.1:c.2048G>T	ENSP00000501833.1:p.Cys683Phe
ENST00000675399.1:c.2048G>T	ENSP00000501932.1:p.Cys683Phe
ENST00000676421.1:c.2057G>T	ENSP00000502322.1:p.Cys686Phe
ENST00000263604.5:c.2201G>T	ENSP00000263604.4:p.Cys734Phe
ENST00000371757.6:c.2300G>T	ENSP00000360822.2:p.Cys767Phe
ENST00000460750.5:c.*1910G>T	ENSP00000418777.1:n.*1910G>T
ENST00000486577.6:c.2183G>T	ENSP00000417578.3:p.Cys728Phe
ENST00000487664.5:c.2300G>T	ENSP00000417851.2:p.Cys767Phe
ENST00000488444.6:c.2243G>T	ENSP00000419007.3:p.Cys748Phe
ENST00000490355.6:c.2237G>T	ENSP00000418003.3:p.Cys746Phe
ENST00000490363.3:n.2119G>T
ENST00000491806.6:c.2243G>T	ENSP00000419086.3:p.Cys748Phe
ENST00000628528.2:c.2165G>T	ENSP00000486374.1:p.Cys722Phe
ENST00000630792.2:c.2135G>T	ENSP00000486486.1:p.Cys712Phe
ENST00000631073.2:c.2243G>T	ENSP00000486130.1:p.Cys748Phe
ENST00000631193.1:c.149G>T	ENSP00000486830.1:p.Cys50Phe
NM_001272003.1:c.2165G>T	NP_001258932.1:p.Cys722Phe
NM_020822.2:c.2300G>T	NP_065873.2:p.Cys767Phe
XM_011518877.1:c.2435G>T	XP_011517179.1:p.Cys812Phe
XM_011518878.1:c.2444G>T	XP_011517180.1:p.Cys815Phe
XM_011518879.1:c.2435G>T	XP_011517181.1:p.Cys812Phe
XM_011518880.1:c.2201G>T	XP_011517182.1:p.Cys734Phe
XM_011518881.1:c.1790G>T	XP_011517183.1:p.Cys597Phe
XM_011518877.3:c.2435G>T	XP_011517179.1:p.Cys812Phe
XM_011518878.3:c.2444G>T	XP_011517180.1:p.Cys815Phe
XM_011518879.3:c.2435G>T	XP_011517181.1:p.Cys812Phe
XM_011518881.3:c.1790G>T	XP_011517183.1:p.Cys597Phe
XM_017014931.1:c.2234G>T	XP_016870420.1:p.Cys745Phe
XM_017014932.1:c.2057G>T	XP_016870421.1:p.Cys686Phe
XM_017014933.1:c.1790G>T	XP_016870422.1:p.Cys597Phe
XM_024447617.1:c.1790G>T	XP_024303385.1:p.Cys597Phe
XM_024447618.1:c.1790G>T	XP_024303386.1:p.Cys597Phe
NM_020822.3:c.2300G>T MANE Select	NP_065873.2:p.Cys767Phe
NM_001272003.2:c.2165G>T	NP_001258932.1:p.Cys722Phe