Canonical Allele Identifier: CA5327249

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 449682
• ClinVar RCV Id: RCV000523851
• dbSNP Id: rs761987610
• ExAC: 9:138667193 G / A
• gnomAD v2: 9-138667193-G-A
• gnomAD v4: 9-135775347-G-A
• MyVariant Identifiers: chr9:g.138667193G>A (hg19) ; chr9:g.135775347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775347G>A , CM000671.2:g.135775347G>A	GRCh38
NC_000009.11:g.138667193G>A , CM000671.1:g.138667193G>A	GRCh37
NC_000009.10:g.137807014G>A	NCBI36
NG_033070.1:g.78163G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2281G>A MANE Select	ENSP00000360822.2:p.Gly761Ser
ENST00000674572.1:c.2122G>A	ENSP00000501742.1:p.Gly708Ser
ENST00000675090.1:c.2029G>A	ENSP00000501833.1:p.Gly677Ser
ENST00000675399.1:c.2029G>A	ENSP00000501932.1:p.Gly677Ser
ENST00000676421.1:c.2038G>A	ENSP00000502322.1:p.Gly680Ser
ENST00000263604.5:c.2182G>A	ENSP00000263604.4:p.Gly728Ser
ENST00000371757.6:c.2281G>A	ENSP00000360822.2:p.Gly761Ser
ENST00000460750.5:c.*1891G>A	ENSP00000418777.1:n.*1891G>A
ENST00000486577.6:c.2164G>A	ENSP00000417578.3:p.Gly722Ser
ENST00000487664.5:c.2281G>A	ENSP00000417851.2:p.Gly761Ser
ENST00000488444.6:c.2224G>A	ENSP00000419007.3:p.Gly742Ser
ENST00000490355.6:c.2218G>A	ENSP00000418003.3:p.Gly740Ser
ENST00000490363.3:n.2100G>A
ENST00000491806.6:c.2224G>A	ENSP00000419086.3:p.Gly742Ser
ENST00000628528.2:c.2146G>A	ENSP00000486374.1:p.Gly716Ser
ENST00000630792.2:c.2116G>A	ENSP00000486486.1:p.Gly706Ser
ENST00000631073.2:c.2224G>A	ENSP00000486130.1:p.Gly742Ser
ENST00000631193.1:c.130G>A	ENSP00000486830.1:p.Gly44Ser
NM_001272003.1:c.2146G>A	NP_001258932.1:p.Gly716Ser
NM_020822.2:c.2281G>A	NP_065873.2:p.Gly761Ser
XM_011518877.1:c.2416G>A	XP_011517179.1:p.Gly806Ser
XM_011518878.1:c.2425G>A	XP_011517180.1:p.Gly809Ser
XM_011518879.1:c.2416G>A	XP_011517181.1:p.Gly806Ser
XM_011518880.1:c.2182G>A	XP_011517182.1:p.Gly728Ser
XM_011518881.1:c.1771G>A	XP_011517183.1:p.Gly591Ser
XM_011518877.3:c.2416G>A	XP_011517179.1:p.Gly806Ser
XM_011518878.3:c.2425G>A	XP_011517180.1:p.Gly809Ser
XM_011518879.3:c.2416G>A	XP_011517181.1:p.Gly806Ser
XM_011518881.3:c.1771G>A	XP_011517183.1:p.Gly591Ser
XM_017014931.1:c.2215G>A	XP_016870420.1:p.Gly739Ser
XM_017014932.1:c.2038G>A	XP_016870421.1:p.Gly680Ser
XM_017014933.1:c.1771G>A	XP_016870422.1:p.Gly591Ser
XM_024447617.1:c.1771G>A	XP_024303385.1:p.Gly591Ser
XM_024447618.1:c.1771G>A	XP_024303386.1:p.Gly591Ser
NM_020822.3:c.2281G>A MANE Select	NP_065873.2:p.Gly761Ser
NM_001272003.2:c.2146G>A	NP_001258932.1:p.Gly716Ser