Canonical Allele Identifier: CA375512642

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667260A>T (hg19) ; chr9:g.135775414A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775414A>T , CM000671.2:g.135775414A>T	GRCh38
NC_000009.11:g.138667260A>T , CM000671.1:g.138667260A>T	GRCh37
NC_000009.10:g.137807081A>T	NCBI36
NG_033070.1:g.78230A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2348A>T MANE Select	ENSP00000360822.2:p.Lys783Met
ENST00000674572.1:c.2189A>T	ENSP00000501742.1:p.Lys730Met
ENST00000675090.1:c.2096A>T	ENSP00000501833.1:p.Lys699Met
ENST00000675399.1:c.2096A>T	ENSP00000501932.1:p.Lys699Met
ENST00000676421.1:c.2105A>T	ENSP00000502322.1:p.Lys702Met
ENST00000263604.5:c.2249A>T	ENSP00000263604.4:p.Lys750Met
ENST00000371757.6:c.2348A>T	ENSP00000360822.2:p.Lys783Met
ENST00000460750.5:c.*1958A>T	ENSP00000418777.1:n.*1958A>T
ENST00000486577.6:c.2231A>T	ENSP00000417578.3:p.Lys744Met
ENST00000487664.5:c.2348A>T	ENSP00000417851.2:p.Lys783Met
ENST00000488444.6:c.2291A>T	ENSP00000419007.3:p.Lys764Met
ENST00000490355.6:c.2285A>T	ENSP00000418003.3:p.Lys762Met
ENST00000490363.3:n.2167A>T
ENST00000491806.6:c.2291A>T	ENSP00000419086.3:p.Lys764Met
ENST00000628528.2:c.2213A>T	ENSP00000486374.1:p.Lys738Met
ENST00000630792.2:c.2183A>T	ENSP00000486486.1:p.Lys728Met
ENST00000631073.2:c.2291A>T	ENSP00000486130.1:p.Lys764Met
ENST00000631193.1:c.197A>T	ENSP00000486830.1:p.Lys66Met
NM_001272003.1:c.2213A>T	NP_001258932.1:p.Lys738Met
NM_020822.2:c.2348A>T	NP_065873.2:p.Lys783Met
XM_011518877.1:c.2483A>T	XP_011517179.1:p.Lys828Met
XM_011518878.1:c.2492A>T	XP_011517180.1:p.Lys831Met
XM_011518879.1:c.2483A>T	XP_011517181.1:p.Lys828Met
XM_011518880.1:c.2249A>T	XP_011517182.1:p.Lys750Met
XM_011518881.1:c.1838A>T	XP_011517183.1:p.Lys613Met
XM_011518877.3:c.2483A>T	XP_011517179.1:p.Lys828Met
XM_011518878.3:c.2492A>T	XP_011517180.1:p.Lys831Met
XM_011518879.3:c.2483A>T	XP_011517181.1:p.Lys828Met
XM_011518881.3:c.1838A>T	XP_011517183.1:p.Lys613Met
XM_017014931.1:c.2282A>T	XP_016870420.1:p.Lys761Met
XM_017014932.1:c.2105A>T	XP_016870421.1:p.Lys702Met
XM_017014933.1:c.1838A>T	XP_016870422.1:p.Lys613Met
XM_024447617.1:c.1838A>T	XP_024303385.1:p.Lys613Met
XM_024447618.1:c.1838A>T	XP_024303386.1:p.Lys613Met
NM_020822.3:c.2348A>T MANE Select	NP_065873.2:p.Lys783Met
NM_001272003.2:c.2213A>T	NP_001258932.1:p.Lys738Met