Canonical Allele Identifier: CA375512102

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2499302
• ClinVar RCV Id: RCV003221603
• gnomAD v4: 9-135775312-A-G
• MyVariant Identifiers: chr9:g.138667158A>G (hg19) ; chr9:g.135775312A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775312A>G , CM000671.2:g.135775312A>G	GRCh38
NC_000009.11:g.138667158A>G , CM000671.1:g.138667158A>G	GRCh37
NC_000009.10:g.137806979A>G	NCBI36
NG_033070.1:g.78128A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2246A>G MANE Select	ENSP00000360822.2:p.Tyr749Cys
ENST00000674572.1:c.2087A>G	ENSP00000501742.1:p.Tyr696Cys
ENST00000675090.1:c.1994A>G	ENSP00000501833.1:p.Tyr665Cys
ENST00000675399.1:c.1994A>G	ENSP00000501932.1:p.Tyr665Cys
ENST00000676421.1:c.2003A>G	ENSP00000502322.1:p.Tyr668Cys
ENST00000263604.5:c.2147A>G	ENSP00000263604.4:p.Tyr716Cys
ENST00000371757.6:c.2246A>G	ENSP00000360822.2:p.Tyr749Cys
ENST00000460750.5:c.*1856A>G	ENSP00000418777.1:n.*1856A>G
ENST00000486577.6:c.2129A>G	ENSP00000417578.3:p.Tyr710Cys
ENST00000487664.5:c.2246A>G	ENSP00000417851.2:p.Tyr749Cys
ENST00000488444.6:c.2189A>G	ENSP00000419007.3:p.Tyr730Cys
ENST00000490355.6:c.2183A>G	ENSP00000418003.3:p.Tyr728Cys
ENST00000490363.3:n.2065A>G
ENST00000491806.6:c.2189A>G	ENSP00000419086.3:p.Tyr730Cys
ENST00000628528.2:c.2111A>G	ENSP00000486374.1:p.Tyr704Cys
ENST00000630792.2:c.2081A>G	ENSP00000486486.1:p.Tyr694Cys
ENST00000631073.2:c.2189A>G	ENSP00000486130.1:p.Tyr730Cys
ENST00000631193.1:c.95A>G	ENSP00000486830.1:p.Tyr32Cys
NM_001272003.1:c.2111A>G	NP_001258932.1:p.Tyr704Cys
NM_020822.2:c.2246A>G	NP_065873.2:p.Tyr749Cys
XM_011518877.1:c.2381A>G	XP_011517179.1:p.Tyr794Cys
XM_011518878.1:c.2390A>G	XP_011517180.1:p.Tyr797Cys
XM_011518879.1:c.2381A>G	XP_011517181.1:p.Tyr794Cys
XM_011518880.1:c.2147A>G	XP_011517182.1:p.Tyr716Cys
XM_011518881.1:c.1736A>G	XP_011517183.1:p.Tyr579Cys
XM_011518877.3:c.2381A>G	XP_011517179.1:p.Tyr794Cys
XM_011518878.3:c.2390A>G	XP_011517180.1:p.Tyr797Cys
XM_011518879.3:c.2381A>G	XP_011517181.1:p.Tyr794Cys
XM_011518881.3:c.1736A>G	XP_011517183.1:p.Tyr579Cys
XM_017014931.1:c.2180A>G	XP_016870420.1:p.Tyr727Cys
XM_017014932.1:c.2003A>G	XP_016870421.1:p.Tyr668Cys
XM_017014933.1:c.1736A>G	XP_016870422.1:p.Tyr579Cys
XM_024447617.1:c.1736A>G	XP_024303385.1:p.Tyr579Cys
XM_024447618.1:c.1736A>G	XP_024303386.1:p.Tyr579Cys
NM_020822.3:c.2246A>G MANE Select	NP_065873.2:p.Tyr749Cys
NM_001272003.2:c.2111A>G	NP_001258932.1:p.Tyr704Cys