Canonical Allele Identifier: CA375512603

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775412-C-G
• MyVariant Identifiers: chr9:g.138667258C>G (hg19) ; chr9:g.135775412C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775412C>G , CM000671.2:g.135775412C>G	GRCh38
NC_000009.11:g.138667258C>G , CM000671.1:g.138667258C>G	GRCh37
NC_000009.10:g.137807079C>G	NCBI36
NG_033070.1:g.78228C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2346C>G MANE Select	ENSP00000360822.2:p.Asp782Glu
ENST00000674572.1:c.2187C>G	ENSP00000501742.1:p.Asp729Glu
ENST00000675090.1:c.2094C>G	ENSP00000501833.1:p.Asp698Glu
ENST00000675399.1:c.2094C>G	ENSP00000501932.1:p.Asp698Glu
ENST00000676421.1:c.2103C>G	ENSP00000502322.1:p.Asp701Glu
ENST00000263604.5:c.2247C>G	ENSP00000263604.4:p.Asp749Glu
ENST00000371757.6:c.2346C>G	ENSP00000360822.2:p.Asp782Glu
ENST00000460750.5:c.*1956C>G	ENSP00000418777.1:n.*1956C>G
ENST00000486577.6:c.2229C>G	ENSP00000417578.3:p.Asp743Glu
ENST00000487664.5:c.2346C>G	ENSP00000417851.2:p.Asp782Glu
ENST00000488444.6:c.2289C>G	ENSP00000419007.3:p.Asp763Glu
ENST00000490355.6:c.2283C>G	ENSP00000418003.3:p.Asp761Glu
ENST00000490363.3:n.2165C>G
ENST00000491806.6:c.2289C>G	ENSP00000419086.3:p.Asp763Glu
ENST00000628528.2:c.2211C>G	ENSP00000486374.1:p.Asp737Glu
ENST00000630792.2:c.2181C>G	ENSP00000486486.1:p.Asp727Glu
ENST00000631073.2:c.2289C>G	ENSP00000486130.1:p.Asp763Glu
ENST00000631193.1:c.195C>G	ENSP00000486830.1:p.Asp65Glu
NM_001272003.1:c.2211C>G	NP_001258932.1:p.Asp737Glu
NM_020822.2:c.2346C>G	NP_065873.2:p.Asp782Glu
XM_011518877.1:c.2481C>G	XP_011517179.1:p.Asp827Glu
XM_011518878.1:c.2490C>G	XP_011517180.1:p.Asp830Glu
XM_011518879.1:c.2481C>G	XP_011517181.1:p.Asp827Glu
XM_011518880.1:c.2247C>G	XP_011517182.1:p.Asp749Glu
XM_011518881.1:c.1836C>G	XP_011517183.1:p.Asp612Glu
XM_011518877.3:c.2481C>G	XP_011517179.1:p.Asp827Glu
XM_011518878.3:c.2490C>G	XP_011517180.1:p.Asp830Glu
XM_011518879.3:c.2481C>G	XP_011517181.1:p.Asp827Glu
XM_011518881.3:c.1836C>G	XP_011517183.1:p.Asp612Glu
XM_017014931.1:c.2280C>G	XP_016870420.1:p.Asp760Glu
XM_017014932.1:c.2103C>G	XP_016870421.1:p.Asp701Glu
XM_017014933.1:c.1836C>G	XP_016870422.1:p.Asp612Glu
XM_024447617.1:c.1836C>G	XP_024303385.1:p.Asp612Glu
XM_024447618.1:c.1836C>G	XP_024303386.1:p.Asp612Glu
NM_020822.3:c.2346C>G MANE Select	NP_065873.2:p.Asp782Glu
NM_001272003.2:c.2211C>G	NP_001258932.1:p.Asp737Glu