Canonical Allele Identifier: CA375512473

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667239T>G (hg19) ; chr9:g.135775393T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775393T>G , CM000671.2:g.135775393T>G	GRCh38
NC_000009.11:g.138667239T>G , CM000671.1:g.138667239T>G	GRCh37
NC_000009.10:g.137807060T>G	NCBI36
NG_033070.1:g.78209T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2327T>G MANE Select	ENSP00000360822.2:p.Phe776Cys
ENST00000674572.1:c.2168T>G	ENSP00000501742.1:p.Phe723Cys
ENST00000675090.1:c.2075T>G	ENSP00000501833.1:p.Phe692Cys
ENST00000675399.1:c.2075T>G	ENSP00000501932.1:p.Phe692Cys
ENST00000676421.1:c.2084T>G	ENSP00000502322.1:p.Phe695Cys
ENST00000263604.5:c.2228T>G	ENSP00000263604.4:p.Phe743Cys
ENST00000371757.6:c.2327T>G	ENSP00000360822.2:p.Phe776Cys
ENST00000460750.5:c.*1937T>G	ENSP00000418777.1:n.*1937T>G
ENST00000486577.6:c.2210T>G	ENSP00000417578.3:p.Phe737Cys
ENST00000487664.5:c.2327T>G	ENSP00000417851.2:p.Phe776Cys
ENST00000488444.6:c.2270T>G	ENSP00000419007.3:p.Phe757Cys
ENST00000490355.6:c.2264T>G	ENSP00000418003.3:p.Phe755Cys
ENST00000490363.3:n.2146T>G
ENST00000491806.6:c.2270T>G	ENSP00000419086.3:p.Phe757Cys
ENST00000628528.2:c.2192T>G	ENSP00000486374.1:p.Phe731Cys
ENST00000630792.2:c.2162T>G	ENSP00000486486.1:p.Phe721Cys
ENST00000631073.2:c.2270T>G	ENSP00000486130.1:p.Phe757Cys
ENST00000631193.1:c.176T>G	ENSP00000486830.1:p.Phe59Cys
NM_001272003.1:c.2192T>G	NP_001258932.1:p.Phe731Cys
NM_020822.2:c.2327T>G	NP_065873.2:p.Phe776Cys
XM_011518877.1:c.2462T>G	XP_011517179.1:p.Phe821Cys
XM_011518878.1:c.2471T>G	XP_011517180.1:p.Phe824Cys
XM_011518879.1:c.2462T>G	XP_011517181.1:p.Phe821Cys
XM_011518880.1:c.2228T>G	XP_011517182.1:p.Phe743Cys
XM_011518881.1:c.1817T>G	XP_011517183.1:p.Phe606Cys
XM_011518877.3:c.2462T>G	XP_011517179.1:p.Phe821Cys
XM_011518878.3:c.2471T>G	XP_011517180.1:p.Phe824Cys
XM_011518879.3:c.2462T>G	XP_011517181.1:p.Phe821Cys
XM_011518881.3:c.1817T>G	XP_011517183.1:p.Phe606Cys
XM_017014931.1:c.2261T>G	XP_016870420.1:p.Phe754Cys
XM_017014932.1:c.2084T>G	XP_016870421.1:p.Phe695Cys
XM_017014933.1:c.1817T>G	XP_016870422.1:p.Phe606Cys
XM_024447617.1:c.1817T>G	XP_024303385.1:p.Phe606Cys
XM_024447618.1:c.1817T>G	XP_024303386.1:p.Phe606Cys
NM_020822.3:c.2327T>G MANE Select	NP_065873.2:p.Phe776Cys
NM_001272003.2:c.2192T>G	NP_001258932.1:p.Phe731Cys