Canonical Allele Identifier: CA375512220

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775344-A-G
• MyVariant Identifiers: chr9:g.138667190A>G (hg19) ; chr9:g.135775344A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775344A>G , CM000671.2:g.135775344A>G	GRCh38
NC_000009.11:g.138667190A>G , CM000671.1:g.138667190A>G	GRCh37
NC_000009.10:g.137807011A>G	NCBI36
NG_033070.1:g.78160A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2278A>G MANE Select	ENSP00000360822.2:p.Ile760Val
ENST00000674572.1:c.2119A>G	ENSP00000501742.1:p.Ile707Val
ENST00000675090.1:c.2026A>G	ENSP00000501833.1:p.Ile676Val
ENST00000675399.1:c.2026A>G	ENSP00000501932.1:p.Ile676Val
ENST00000676421.1:c.2035A>G	ENSP00000502322.1:p.Ile679Val
ENST00000263604.5:c.2179A>G	ENSP00000263604.4:p.Ile727Val
ENST00000371757.6:c.2278A>G	ENSP00000360822.2:p.Ile760Val
ENST00000460750.5:c.*1888A>G	ENSP00000418777.1:n.*1888A>G
ENST00000486577.6:c.2161A>G	ENSP00000417578.3:p.Ile721Val
ENST00000487664.5:c.2278A>G	ENSP00000417851.2:p.Ile760Val
ENST00000488444.6:c.2221A>G	ENSP00000419007.3:p.Ile741Val
ENST00000490355.6:c.2215A>G	ENSP00000418003.3:p.Ile739Val
ENST00000490363.3:n.2097A>G
ENST00000491806.6:c.2221A>G	ENSP00000419086.3:p.Ile741Val
ENST00000628528.2:c.2143A>G	ENSP00000486374.1:p.Ile715Val
ENST00000630792.2:c.2113A>G	ENSP00000486486.1:p.Ile705Val
ENST00000631073.2:c.2221A>G	ENSP00000486130.1:p.Ile741Val
ENST00000631193.1:c.127A>G	ENSP00000486830.1:p.Ile43Val
NM_001272003.1:c.2143A>G	NP_001258932.1:p.Ile715Val
NM_020822.2:c.2278A>G	NP_065873.2:p.Ile760Val
XM_011518877.1:c.2413A>G	XP_011517179.1:p.Ile805Val
XM_011518878.1:c.2422A>G	XP_011517180.1:p.Ile808Val
XM_011518879.1:c.2413A>G	XP_011517181.1:p.Ile805Val
XM_011518880.1:c.2179A>G	XP_011517182.1:p.Ile727Val
XM_011518881.1:c.1768A>G	XP_011517183.1:p.Ile590Val
XM_011518877.3:c.2413A>G	XP_011517179.1:p.Ile805Val
XM_011518878.3:c.2422A>G	XP_011517180.1:p.Ile808Val
XM_011518879.3:c.2413A>G	XP_011517181.1:p.Ile805Val
XM_011518881.3:c.1768A>G	XP_011517183.1:p.Ile590Val
XM_017014931.1:c.2212A>G	XP_016870420.1:p.Ile738Val
XM_017014932.1:c.2035A>G	XP_016870421.1:p.Ile679Val
XM_017014933.1:c.1768A>G	XP_016870422.1:p.Ile590Val
XM_024447617.1:c.1768A>G	XP_024303385.1:p.Ile590Val
XM_024447618.1:c.1768A>G	XP_024303386.1:p.Ile590Val
NM_020822.3:c.2278A>G MANE Select	NP_065873.2:p.Ile760Val
NM_001272003.2:c.2143A>G	NP_001258932.1:p.Ile715Val