Canonical Allele Identifier: CA375512381

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667227T>G (hg19) ; chr9:g.135775381T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775381T>G , CM000671.2:g.135775381T>G	GRCh38
NC_000009.11:g.138667227T>G , CM000671.1:g.138667227T>G	GRCh37
NC_000009.10:g.137807048T>G	NCBI36
NG_033070.1:g.78197T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2315T>G MANE Select	ENSP00000360822.2:p.Val772Gly
ENST00000674572.1:c.2156T>G	ENSP00000501742.1:p.Val719Gly
ENST00000675090.1:c.2063T>G	ENSP00000501833.1:p.Val688Gly
ENST00000675399.1:c.2063T>G	ENSP00000501932.1:p.Val688Gly
ENST00000676421.1:c.2072T>G	ENSP00000502322.1:p.Val691Gly
ENST00000263604.5:c.2216T>G	ENSP00000263604.4:p.Val739Gly
ENST00000371757.6:c.2315T>G	ENSP00000360822.2:p.Val772Gly
ENST00000460750.5:c.*1925T>G	ENSP00000418777.1:n.*1925T>G
ENST00000486577.6:c.2198T>G	ENSP00000417578.3:p.Val733Gly
ENST00000487664.5:c.2315T>G	ENSP00000417851.2:p.Val772Gly
ENST00000488444.6:c.2258T>G	ENSP00000419007.3:p.Val753Gly
ENST00000490355.6:c.2252T>G	ENSP00000418003.3:p.Val751Gly
ENST00000490363.3:n.2134T>G
ENST00000491806.6:c.2258T>G	ENSP00000419086.3:p.Val753Gly
ENST00000628528.2:c.2180T>G	ENSP00000486374.1:p.Val727Gly
ENST00000630792.2:c.2150T>G	ENSP00000486486.1:p.Val717Gly
ENST00000631073.2:c.2258T>G	ENSP00000486130.1:p.Val753Gly
ENST00000631193.1:c.164T>G	ENSP00000486830.1:p.Val55Gly
NM_001272003.1:c.2180T>G	NP_001258932.1:p.Val727Gly
NM_020822.2:c.2315T>G	NP_065873.2:p.Val772Gly
XM_011518877.1:c.2450T>G	XP_011517179.1:p.Val817Gly
XM_011518878.1:c.2459T>G	XP_011517180.1:p.Val820Gly
XM_011518879.1:c.2450T>G	XP_011517181.1:p.Val817Gly
XM_011518880.1:c.2216T>G	XP_011517182.1:p.Val739Gly
XM_011518881.1:c.1805T>G	XP_011517183.1:p.Val602Gly
XM_011518877.3:c.2450T>G	XP_011517179.1:p.Val817Gly
XM_011518878.3:c.2459T>G	XP_011517180.1:p.Val820Gly
XM_011518879.3:c.2450T>G	XP_011517181.1:p.Val817Gly
XM_011518881.3:c.1805T>G	XP_011517183.1:p.Val602Gly
XM_017014931.1:c.2249T>G	XP_016870420.1:p.Val750Gly
XM_017014932.1:c.2072T>G	XP_016870421.1:p.Val691Gly
XM_017014933.1:c.1805T>G	XP_016870422.1:p.Val602Gly
XM_024447617.1:c.1805T>G	XP_024303385.1:p.Val602Gly
XM_024447618.1:c.1805T>G	XP_024303386.1:p.Val602Gly
NM_020822.3:c.2315T>G MANE Select	NP_065873.2:p.Val772Gly
NM_001272003.2:c.2180T>G	NP_001258932.1:p.Val727Gly