Canonical Allele Identifier: CA375506549

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 1311274
• ClinVar RCV Id: RCV001758783 ; RCV002540422
• dbSNP Id: rs1832669452
• gnomAD v4: 9-135770374-A-G
• MyVariant Identifiers: chr9:g.138662220A>G (hg19) ; chr9:g.135770374A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770374A>G , CM000671.2:g.135770374A>G	GRCh38
NC_000009.11:g.138662220A>G , CM000671.1:g.138662220A>G	GRCh37
NC_000009.10:g.137802041A>G	NCBI36
NG_033070.1:g.73190A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1696A>G MANE Select	ENSP00000360822.2:p.Met566Val
ENST00000674572.1:c.1537A>G	ENSP00000501742.1:p.Met513Val
ENST00000675090.1:c.1444A>G	ENSP00000501833.1:p.Met482Val
ENST00000675399.1:c.1444A>G	ENSP00000501932.1:p.Met482Val
ENST00000676421.1:c.1453A>G	ENSP00000502322.1:p.Met485Val
ENST00000263604.5:c.1597A>G	ENSP00000263604.4:p.Met533Val
ENST00000371757.6:c.1696A>G	ENSP00000360822.2:p.Met566Val
ENST00000460750.5:c.*1306A>G	ENSP00000418777.1:n.*1306A>G
ENST00000486577.6:c.1579A>G	ENSP00000417578.3:p.Met527Val
ENST00000487664.5:c.1696A>G	ENSP00000417851.2:p.Met566Val
ENST00000488444.6:c.1639A>G	ENSP00000419007.3:p.Met547Val
ENST00000490355.6:c.1639A>G	ENSP00000418003.3:p.Met547Val
ENST00000490363.3:n.1515A>G
ENST00000491806.6:c.1639A>G	ENSP00000419086.3:p.Met547Val
ENST00000628528.2:c.1561A>G	ENSP00000486374.1:p.Met521Val
ENST00000630792.2:c.1537A>G	ENSP00000486486.1:p.Met513Val
ENST00000631073.2:c.1639A>G	ENSP00000486130.1:p.Met547Val
NM_001272003.1:c.1561A>G	NP_001258932.1:p.Met521Val
NM_020822.2:c.1696A>G	NP_065873.2:p.Met566Val
XM_011518877.1:c.1831A>G	XP_011517179.1:p.Met611Val
XM_011518878.1:c.1840A>G	XP_011517180.1:p.Met614Val
XM_011518879.1:c.1831A>G	XP_011517181.1:p.Met611Val
XM_011518880.1:c.1597A>G	XP_011517182.1:p.Met533Val
XM_011518881.1:c.1186A>G	XP_011517183.1:p.Met396Val
XM_011518877.3:c.1831A>G	XP_011517179.1:p.Met611Val
XM_011518878.3:c.1840A>G	XP_011517180.1:p.Met614Val
XM_011518879.3:c.1831A>G	XP_011517181.1:p.Met611Val
XM_011518881.3:c.1186A>G	XP_011517183.1:p.Met396Val
XM_017014931.1:c.1630A>G	XP_016870420.1:p.Met544Val
XM_017014932.1:c.1453A>G	XP_016870421.1:p.Met485Val
XM_017014933.1:c.1186A>G	XP_016870422.1:p.Met396Val
XM_024447617.1:c.1186A>G	XP_024303385.1:p.Met396Val
XM_024447618.1:c.1186A>G	XP_024303386.1:p.Met396Val
NM_020822.3:c.1696A>G MANE Select	NP_065873.2:p.Met566Val
NM_001272003.2:c.1561A>G	NP_001258932.1:p.Met521Val