Canonical Allele Identifier: CA375512152

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667171C>G (hg19) ; chr9:g.135775325C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775325C>G , CM000671.2:g.135775325C>G	GRCh38
NC_000009.11:g.138667171C>G , CM000671.1:g.138667171C>G	GRCh37
NC_000009.10:g.137806992C>G	NCBI36
NG_033070.1:g.78141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2259C>G MANE Select	ENSP00000360822.2:p.Tyr753Ter
ENST00000674572.1:c.2100C>G	ENSP00000501742.1:p.Tyr700Ter
ENST00000675090.1:c.2007C>G	ENSP00000501833.1:p.Tyr669Ter
ENST00000675399.1:c.2007C>G	ENSP00000501932.1:p.Tyr669Ter
ENST00000676421.1:c.2016C>G	ENSP00000502322.1:p.Tyr672Ter
ENST00000263604.5:c.2160C>G	ENSP00000263604.4:p.Tyr720Ter
ENST00000371757.6:c.2259C>G	ENSP00000360822.2:p.Tyr753Ter
ENST00000460750.5:c.*1869C>G	ENSP00000418777.1:n.*1869C>G
ENST00000486577.6:c.2142C>G	ENSP00000417578.3:p.Tyr714Ter
ENST00000487664.5:c.2259C>G	ENSP00000417851.2:p.Tyr753Ter
ENST00000488444.6:c.2202C>G	ENSP00000419007.3:p.Tyr734Ter
ENST00000490355.6:c.2196C>G	ENSP00000418003.3:p.Tyr732Ter
ENST00000490363.3:n.2078C>G
ENST00000491806.6:c.2202C>G	ENSP00000419086.3:p.Tyr734Ter
ENST00000628528.2:c.2124C>G	ENSP00000486374.1:p.Tyr708Ter
ENST00000630792.2:c.2094C>G	ENSP00000486486.1:p.Tyr698Ter
ENST00000631073.2:c.2202C>G	ENSP00000486130.1:p.Tyr734Ter
ENST00000631193.1:c.108C>G	ENSP00000486830.1:p.Tyr36Ter
NM_001272003.1:c.2124C>G	NP_001258932.1:p.Tyr708Ter
NM_020822.2:c.2259C>G	NP_065873.2:p.Tyr753Ter
XM_011518877.1:c.2394C>G	XP_011517179.1:p.Tyr798Ter
XM_011518878.1:c.2403C>G	XP_011517180.1:p.Tyr801Ter
XM_011518879.1:c.2394C>G	XP_011517181.1:p.Tyr798Ter
XM_011518880.1:c.2160C>G	XP_011517182.1:p.Tyr720Ter
XM_011518881.1:c.1749C>G	XP_011517183.1:p.Tyr583Ter
XM_011518877.3:c.2394C>G	XP_011517179.1:p.Tyr798Ter
XM_011518878.3:c.2403C>G	XP_011517180.1:p.Tyr801Ter
XM_011518879.3:c.2394C>G	XP_011517181.1:p.Tyr798Ter
XM_011518881.3:c.1749C>G	XP_011517183.1:p.Tyr583Ter
XM_017014931.1:c.2193C>G	XP_016870420.1:p.Tyr731Ter
XM_017014932.1:c.2016C>G	XP_016870421.1:p.Tyr672Ter
XM_017014933.1:c.1749C>G	XP_016870422.1:p.Tyr583Ter
XM_024447617.1:c.1749C>G	XP_024303385.1:p.Tyr583Ter
XM_024447618.1:c.1749C>G	XP_024303386.1:p.Tyr583Ter
NM_020822.3:c.2259C>G MANE Select	NP_065873.2:p.Tyr753Ter
NM_001272003.2:c.2124C>G	NP_001258932.1:p.Tyr708Ter