Canonical Allele Identifier: CA467698842

Gene: KCNT1

Linked Data

• dbSNP Id: rs1348015013
• gnomAD v2: 9-138667261-G-A
• gnomAD v4: 9-135775415-G-A
• MyVariant Identifiers: chr9:g.138667261G>A (hg19) ; chr9:g.135775415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775415G>A , CM000671.2:g.135775415G>A	GRCh38
NC_000009.11:g.138667261G>A , CM000671.1:g.138667261G>A	GRCh37
NC_000009.10:g.137807082G>A	NCBI36
NG_033070.1:g.78231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2349G>A MANE Select	ENSP00000360822.2:p.Lys783=
ENST00000674572.1:c.2190G>A	ENSP00000501742.1:p.Lys730=
ENST00000675090.1:c.2097G>A	ENSP00000501833.1:p.Lys699=
ENST00000675399.1:c.2097G>A	ENSP00000501932.1:p.Lys699=
ENST00000676421.1:c.2106G>A	ENSP00000502322.1:p.Lys702=
ENST00000263604.5:c.2250G>A	ENSP00000263604.4:p.Lys750=
ENST00000371757.6:c.2349G>A	ENSP00000360822.2:p.Lys783=
ENST00000460750.5:c.*1959G>A	ENSP00000418777.1:n.*1959G>A
ENST00000486577.6:c.2232G>A	ENSP00000417578.3:p.Lys744=
ENST00000487664.5:c.2349G>A	ENSP00000417851.2:p.Lys783=
ENST00000488444.6:c.2292G>A	ENSP00000419007.3:p.Lys764=
ENST00000490355.6:c.2286G>A	ENSP00000418003.3:p.Lys762=
ENST00000490363.3:n.2168G>A
ENST00000491806.6:c.2292G>A	ENSP00000419086.3:p.Lys764=
ENST00000628528.2:c.2214G>A	ENSP00000486374.1:p.Lys738=
ENST00000630792.2:c.2184G>A	ENSP00000486486.1:p.Lys728=
ENST00000631073.2:c.2292G>A	ENSP00000486130.1:p.Lys764=
ENST00000631193.1:c.198G>A	ENSP00000486830.1:p.Lys66=
NM_001272003.1:c.2214G>A	NP_001258932.1:p.Lys738=
NM_020822.2:c.2349G>A	NP_065873.2:p.Lys783=
XM_011518877.1:c.2484G>A	XP_011517179.1:p.Lys828=
XM_011518878.1:c.2493G>A	XP_011517180.1:p.Lys831=
XM_011518879.1:c.2484G>A	XP_011517181.1:p.Lys828=
XM_011518880.1:c.2250G>A	XP_011517182.1:p.Lys750=
XM_011518881.1:c.1839G>A	XP_011517183.1:p.Lys613=
XM_011518877.3:c.2484G>A	XP_011517179.1:p.Lys828=
XM_011518878.3:c.2493G>A	XP_011517180.1:p.Lys831=
XM_011518879.3:c.2484G>A	XP_011517181.1:p.Lys828=
XM_011518881.3:c.1839G>A	XP_011517183.1:p.Lys613=
XM_017014931.1:c.2283G>A	XP_016870420.1:p.Lys761=
XM_017014932.1:c.2106G>A	XP_016870421.1:p.Lys702=
XM_017014933.1:c.1839G>A	XP_016870422.1:p.Lys613=
XM_024447617.1:c.1839G>A	XP_024303385.1:p.Lys613=
XM_024447618.1:c.1839G>A	XP_024303386.1:p.Lys613=
NM_020822.3:c.2349G>A MANE Select	NP_065873.2:p.Lys783=
NM_001272003.2:c.2214G>A	NP_001258932.1:p.Lys738=