Canonical Allele Identifier: CA375499799

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138656881A>G (hg19) ; chr9:g.135765035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765035A>G , CM000671.2:g.135765035A>G	GRCh38
NC_000009.11:g.138656881A>G , CM000671.1:g.138656881A>G	GRCh37
NC_000009.10:g.137796702A>G	NCBI36
NG_033070.1:g.67851A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1040A>G MANE Select	ENSP00000360822.2:p.Glu347Gly
ENST00000674572.1:c.881A>G	ENSP00000501742.1:p.Glu294Gly
ENST00000675090.1:c.788A>G	ENSP00000501833.1:p.Glu263Gly
ENST00000675399.1:c.788A>G	ENSP00000501932.1:p.Glu263Gly
ENST00000676421.1:c.797A>G	ENSP00000502322.1:p.Glu266Gly
ENST00000263604.5:c.941A>G	ENSP00000263604.4:p.Glu314Gly
ENST00000371757.6:c.1040A>G	ENSP00000360822.2:p.Glu347Gly
ENST00000460750.5:c.*650A>G	ENSP00000418777.1:n.*650A>G
ENST00000486577.6:c.923A>G	ENSP00000417578.3:p.Glu308Gly
ENST00000487664.5:c.1040A>G	ENSP00000417851.2:p.Glu347Gly
ENST00000488444.6:c.983A>G	ENSP00000419007.3:p.Glu328Gly
ENST00000490355.6:c.983A>G	ENSP00000418003.3:p.Glu328Gly
ENST00000490363.3:n.859A>G
ENST00000491806.6:c.983A>G	ENSP00000419086.3:p.Glu328Gly
ENST00000628528.2:c.905A>G	ENSP00000486374.1:p.Glu302Gly
ENST00000630792.2:c.881A>G	ENSP00000486486.1:p.Glu294Gly
ENST00000631073.2:c.983A>G	ENSP00000486130.1:p.Glu328Gly
NM_001272003.1:c.905A>G	NP_001258932.1:p.Glu302Gly
NM_020822.2:c.1040A>G	NP_065873.2:p.Glu347Gly
XM_011518877.1:c.1175A>G	XP_011517179.1:p.Glu392Gly
XM_011518878.1:c.1184A>G	XP_011517180.1:p.Glu395Gly
XM_011518879.1:c.1175A>G	XP_011517181.1:p.Glu392Gly
XM_011518880.1:c.941A>G	XP_011517182.1:p.Glu314Gly
XM_011518881.1:c.530A>G	XP_011517183.1:p.Glu177Gly
XM_011518877.3:c.1175A>G	XP_011517179.1:p.Glu392Gly
XM_011518878.3:c.1184A>G	XP_011517180.1:p.Glu395Gly
XM_011518879.3:c.1175A>G	XP_011517181.1:p.Glu392Gly
XM_011518881.3:c.530A>G	XP_011517183.1:p.Glu177Gly
XM_017014931.1:c.974A>G	XP_016870420.1:p.Glu325Gly
XM_017014932.1:c.797A>G	XP_016870421.1:p.Glu266Gly
XM_017014933.1:c.530A>G	XP_016870422.1:p.Glu177Gly
XM_024447617.1:c.530A>G	XP_024303385.1:p.Glu177Gly
XM_024447618.1:c.530A>G	XP_024303386.1:p.Glu177Gly
NM_020822.3:c.1040A>G MANE Select	NP_065873.2:p.Glu347Gly
NM_001272003.2:c.905A>G	NP_001258932.1:p.Glu302Gly