Canonical Allele Identifier: CA375512189

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667181T>G (hg19) ; chr9:g.135775335T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775335T>G , CM000671.2:g.135775335T>G	GRCh38
NC_000009.11:g.138667181T>G , CM000671.1:g.138667181T>G	GRCh37
NC_000009.10:g.137807002T>G	NCBI36
NG_033070.1:g.78151T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2269T>G MANE Select	ENSP00000360822.2:p.Ser757Ala
ENST00000674572.1:c.2110T>G	ENSP00000501742.1:p.Ser704Ala
ENST00000675090.1:c.2017T>G	ENSP00000501833.1:p.Ser673Ala
ENST00000675399.1:c.2017T>G	ENSP00000501932.1:p.Ser673Ala
ENST00000676421.1:c.2026T>G	ENSP00000502322.1:p.Ser676Ala
ENST00000263604.5:c.2170T>G	ENSP00000263604.4:p.Ser724Ala
ENST00000371757.6:c.2269T>G	ENSP00000360822.2:p.Ser757Ala
ENST00000460750.5:c.*1879T>G	ENSP00000418777.1:n.*1879T>G
ENST00000486577.6:c.2152T>G	ENSP00000417578.3:p.Ser718Ala
ENST00000487664.5:c.2269T>G	ENSP00000417851.2:p.Ser757Ala
ENST00000488444.6:c.2212T>G	ENSP00000419007.3:p.Ser738Ala
ENST00000490355.6:c.2206T>G	ENSP00000418003.3:p.Ser736Ala
ENST00000490363.3:n.2088T>G
ENST00000491806.6:c.2212T>G	ENSP00000419086.3:p.Ser738Ala
ENST00000628528.2:c.2134T>G	ENSP00000486374.1:p.Ser712Ala
ENST00000630792.2:c.2104T>G	ENSP00000486486.1:p.Ser702Ala
ENST00000631073.2:c.2212T>G	ENSP00000486130.1:p.Ser738Ala
ENST00000631193.1:c.118T>G	ENSP00000486830.1:p.Ser40Ala
NM_001272003.1:c.2134T>G	NP_001258932.1:p.Ser712Ala
NM_020822.2:c.2269T>G	NP_065873.2:p.Ser757Ala
XM_011518877.1:c.2404T>G	XP_011517179.1:p.Ser802Ala
XM_011518878.1:c.2413T>G	XP_011517180.1:p.Ser805Ala
XM_011518879.1:c.2404T>G	XP_011517181.1:p.Ser802Ala
XM_011518880.1:c.2170T>G	XP_011517182.1:p.Ser724Ala
XM_011518881.1:c.1759T>G	XP_011517183.1:p.Ser587Ala
XM_011518877.3:c.2404T>G	XP_011517179.1:p.Ser802Ala
XM_011518878.3:c.2413T>G	XP_011517180.1:p.Ser805Ala
XM_011518879.3:c.2404T>G	XP_011517181.1:p.Ser802Ala
XM_011518881.3:c.1759T>G	XP_011517183.1:p.Ser587Ala
XM_017014931.1:c.2203T>G	XP_016870420.1:p.Ser735Ala
XM_017014932.1:c.2026T>G	XP_016870421.1:p.Ser676Ala
XM_017014933.1:c.1759T>G	XP_016870422.1:p.Ser587Ala
XM_024447617.1:c.1759T>G	XP_024303385.1:p.Ser587Ala
XM_024447618.1:c.1759T>G	XP_024303386.1:p.Ser587Ala
NM_020822.3:c.2269T>G MANE Select	NP_065873.2:p.Ser757Ala
NM_001272003.2:c.2134T>G	NP_001258932.1:p.Ser712Ala