Canonical Allele Identifier: CA375512278

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667208C>A (hg19) ; chr9:g.135775362C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775362C>A , CM000671.2:g.135775362C>A	GRCh38
NC_000009.11:g.138667208C>A , CM000671.1:g.138667208C>A	GRCh37
NC_000009.10:g.137807029C>A	NCBI36
NG_033070.1:g.78178C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2296C>A MANE Select	ENSP00000360822.2:p.Leu766Met
ENST00000674572.1:c.2137C>A	ENSP00000501742.1:p.Leu713Met
ENST00000675090.1:c.2044C>A	ENSP00000501833.1:p.Leu682Met
ENST00000675399.1:c.2044C>A	ENSP00000501932.1:p.Leu682Met
ENST00000676421.1:c.2053C>A	ENSP00000502322.1:p.Leu685Met
ENST00000263604.5:c.2197C>A	ENSP00000263604.4:p.Leu733Met
ENST00000371757.6:c.2296C>A	ENSP00000360822.2:p.Leu766Met
ENST00000460750.5:c.*1906C>A	ENSP00000418777.1:n.*1906C>A
ENST00000486577.6:c.2179C>A	ENSP00000417578.3:p.Leu727Met
ENST00000487664.5:c.2296C>A	ENSP00000417851.2:p.Leu766Met
ENST00000488444.6:c.2239C>A	ENSP00000419007.3:p.Leu747Met
ENST00000490355.6:c.2233C>A	ENSP00000418003.3:p.Leu745Met
ENST00000490363.3:n.2115C>A
ENST00000491806.6:c.2239C>A	ENSP00000419086.3:p.Leu747Met
ENST00000628528.2:c.2161C>A	ENSP00000486374.1:p.Leu721Met
ENST00000630792.2:c.2131C>A	ENSP00000486486.1:p.Leu711Met
ENST00000631073.2:c.2239C>A	ENSP00000486130.1:p.Leu747Met
ENST00000631193.1:c.145C>A	ENSP00000486830.1:p.Leu49Met
NM_001272003.1:c.2161C>A	NP_001258932.1:p.Leu721Met
NM_020822.2:c.2296C>A	NP_065873.2:p.Leu766Met
XM_011518877.1:c.2431C>A	XP_011517179.1:p.Leu811Met
XM_011518878.1:c.2440C>A	XP_011517180.1:p.Leu814Met
XM_011518879.1:c.2431C>A	XP_011517181.1:p.Leu811Met
XM_011518880.1:c.2197C>A	XP_011517182.1:p.Leu733Met
XM_011518881.1:c.1786C>A	XP_011517183.1:p.Leu596Met
XM_011518877.3:c.2431C>A	XP_011517179.1:p.Leu811Met
XM_011518878.3:c.2440C>A	XP_011517180.1:p.Leu814Met
XM_011518879.3:c.2431C>A	XP_011517181.1:p.Leu811Met
XM_011518881.3:c.1786C>A	XP_011517183.1:p.Leu596Met
XM_017014931.1:c.2230C>A	XP_016870420.1:p.Leu744Met
XM_017014932.1:c.2053C>A	XP_016870421.1:p.Leu685Met
XM_017014933.1:c.1786C>A	XP_016870422.1:p.Leu596Met
XM_024447617.1:c.1786C>A	XP_024303385.1:p.Leu596Met
XM_024447618.1:c.1786C>A	XP_024303386.1:p.Leu596Met
NM_020822.3:c.2296C>A MANE Select	NP_065873.2:p.Leu766Met
NM_001272003.2:c.2161C>A	NP_001258932.1:p.Leu721Met