Canonical Allele Identifier: CA375512584

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667256G>T (hg19) ; chr9:g.135775410G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775410G>T , CM000671.2:g.135775410G>T	GRCh38
NC_000009.11:g.138667256G>T , CM000671.1:g.138667256G>T	GRCh37
NC_000009.10:g.137807077G>T	NCBI36
NG_033070.1:g.78226G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2344G>T MANE Select	ENSP00000360822.2:p.Asp782Tyr
ENST00000674572.1:c.2185G>T	ENSP00000501742.1:p.Asp729Tyr
ENST00000675090.1:c.2092G>T	ENSP00000501833.1:p.Asp698Tyr
ENST00000675399.1:c.2092G>T	ENSP00000501932.1:p.Asp698Tyr
ENST00000676421.1:c.2101G>T	ENSP00000502322.1:p.Asp701Tyr
ENST00000263604.5:c.2245G>T	ENSP00000263604.4:p.Asp749Tyr
ENST00000371757.6:c.2344G>T	ENSP00000360822.2:p.Asp782Tyr
ENST00000460750.5:c.*1954G>T	ENSP00000418777.1:n.*1954G>T
ENST00000486577.6:c.2227G>T	ENSP00000417578.3:p.Asp743Tyr
ENST00000487664.5:c.2344G>T	ENSP00000417851.2:p.Asp782Tyr
ENST00000488444.6:c.2287G>T	ENSP00000419007.3:p.Asp763Tyr
ENST00000490355.6:c.2281G>T	ENSP00000418003.3:p.Asp761Tyr
ENST00000490363.3:n.2163G>T
ENST00000491806.6:c.2287G>T	ENSP00000419086.3:p.Asp763Tyr
ENST00000628528.2:c.2209G>T	ENSP00000486374.1:p.Asp737Tyr
ENST00000630792.2:c.2179G>T	ENSP00000486486.1:p.Asp727Tyr
ENST00000631073.2:c.2287G>T	ENSP00000486130.1:p.Asp763Tyr
ENST00000631193.1:c.193G>T	ENSP00000486830.1:p.Asp65Tyr
NM_001272003.1:c.2209G>T	NP_001258932.1:p.Asp737Tyr
NM_020822.2:c.2344G>T	NP_065873.2:p.Asp782Tyr
XM_011518877.1:c.2479G>T	XP_011517179.1:p.Asp827Tyr
XM_011518878.1:c.2488G>T	XP_011517180.1:p.Asp830Tyr
XM_011518879.1:c.2479G>T	XP_011517181.1:p.Asp827Tyr
XM_011518880.1:c.2245G>T	XP_011517182.1:p.Asp749Tyr
XM_011518881.1:c.1834G>T	XP_011517183.1:p.Asp612Tyr
XM_011518877.3:c.2479G>T	XP_011517179.1:p.Asp827Tyr
XM_011518878.3:c.2488G>T	XP_011517180.1:p.Asp830Tyr
XM_011518879.3:c.2479G>T	XP_011517181.1:p.Asp827Tyr
XM_011518881.3:c.1834G>T	XP_011517183.1:p.Asp612Tyr
XM_017014931.1:c.2278G>T	XP_016870420.1:p.Asp760Tyr
XM_017014932.1:c.2101G>T	XP_016870421.1:p.Asp701Tyr
XM_017014933.1:c.1834G>T	XP_016870422.1:p.Asp612Tyr
XM_024447617.1:c.1834G>T	XP_024303385.1:p.Asp612Tyr
XM_024447618.1:c.1834G>T	XP_024303386.1:p.Asp612Tyr
NM_020822.3:c.2344G>T MANE Select	NP_065873.2:p.Asp782Tyr
NM_001272003.2:c.2209G>T	NP_001258932.1:p.Asp737Tyr