Canonical Allele Identifier: CA375512264

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775359-A-G
• MyVariant Identifiers: chr9:g.138667205A>G (hg19) ; chr9:g.135775359A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775359A>G , CM000671.2:g.135775359A>G	GRCh38
NC_000009.11:g.138667205A>G , CM000671.1:g.138667205A>G	GRCh37
NC_000009.10:g.137807026A>G	NCBI36
NG_033070.1:g.78175A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2293A>G MANE Select	ENSP00000360822.2:p.Thr765Ala
ENST00000674572.1:c.2134A>G	ENSP00000501742.1:p.Thr712Ala
ENST00000675090.1:c.2041A>G	ENSP00000501833.1:p.Thr681Ala
ENST00000675399.1:c.2041A>G	ENSP00000501932.1:p.Thr681Ala
ENST00000676421.1:c.2050A>G	ENSP00000502322.1:p.Thr684Ala
ENST00000263604.5:c.2194A>G	ENSP00000263604.4:p.Thr732Ala
ENST00000371757.6:c.2293A>G	ENSP00000360822.2:p.Thr765Ala
ENST00000460750.5:c.*1903A>G	ENSP00000418777.1:n.*1903A>G
ENST00000486577.6:c.2176A>G	ENSP00000417578.3:p.Thr726Ala
ENST00000487664.5:c.2293A>G	ENSP00000417851.2:p.Thr765Ala
ENST00000488444.6:c.2236A>G	ENSP00000419007.3:p.Thr746Ala
ENST00000490355.6:c.2230A>G	ENSP00000418003.3:p.Thr744Ala
ENST00000490363.3:n.2112A>G
ENST00000491806.6:c.2236A>G	ENSP00000419086.3:p.Thr746Ala
ENST00000628528.2:c.2158A>G	ENSP00000486374.1:p.Thr720Ala
ENST00000630792.2:c.2128A>G	ENSP00000486486.1:p.Thr710Ala
ENST00000631073.2:c.2236A>G	ENSP00000486130.1:p.Thr746Ala
ENST00000631193.1:c.142A>G	ENSP00000486830.1:p.Thr48Ala
NM_001272003.1:c.2158A>G	NP_001258932.1:p.Thr720Ala
NM_020822.2:c.2293A>G	NP_065873.2:p.Thr765Ala
XM_011518877.1:c.2428A>G	XP_011517179.1:p.Thr810Ala
XM_011518878.1:c.2437A>G	XP_011517180.1:p.Thr813Ala
XM_011518879.1:c.2428A>G	XP_011517181.1:p.Thr810Ala
XM_011518880.1:c.2194A>G	XP_011517182.1:p.Thr732Ala
XM_011518881.1:c.1783A>G	XP_011517183.1:p.Thr595Ala
XM_011518877.3:c.2428A>G	XP_011517179.1:p.Thr810Ala
XM_011518878.3:c.2437A>G	XP_011517180.1:p.Thr813Ala
XM_011518879.3:c.2428A>G	XP_011517181.1:p.Thr810Ala
XM_011518881.3:c.1783A>G	XP_011517183.1:p.Thr595Ala
XM_017014931.1:c.2227A>G	XP_016870420.1:p.Thr743Ala
XM_017014932.1:c.2050A>G	XP_016870421.1:p.Thr684Ala
XM_017014933.1:c.1783A>G	XP_016870422.1:p.Thr595Ala
XM_024447617.1:c.1783A>G	XP_024303385.1:p.Thr595Ala
XM_024447618.1:c.1783A>G	XP_024303386.1:p.Thr595Ala
NM_020822.3:c.2293A>G MANE Select	NP_065873.2:p.Thr765Ala
NM_001272003.2:c.2158A>G	NP_001258932.1:p.Thr720Ala