Canonical Allele Identifier: CA375501532

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2948630
• ClinVar RCV Id: RCV003809404
• MyVariant Identifiers: chr9:g.138657550G>T (hg19) ; chr9:g.135765704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765704G>T , CM000671.2:g.135765704G>T	GRCh38
NC_000009.11:g.138657550G>T , CM000671.1:g.138657550G>T	GRCh37
NC_000009.10:g.137797371G>T	NCBI36
NG_033070.1:g.68520G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1281G>T MANE Select	ENSP00000360822.2:p.Gln427His
ENST00000636995.1:n.8G>T
ENST00000637798.1:n.20G>T
ENST00000674572.1:c.1122G>T	ENSP00000501742.1:p.Gln374His
ENST00000675090.1:c.1029G>T	ENSP00000501833.1:p.Gln343His
ENST00000675399.1:c.1029G>T	ENSP00000501932.1:p.Gln343His
ENST00000676421.1:c.1038G>T	ENSP00000502322.1:p.Gln346His
ENST00000263604.5:c.1182G>T	ENSP00000263604.4:p.Gln394His
ENST00000371757.6:c.1281G>T	ENSP00000360822.2:p.Gln427His
ENST00000460750.5:c.*891G>T	ENSP00000418777.1:n.*891G>T
ENST00000486577.6:c.1164G>T	ENSP00000417578.3:p.Gln388His
ENST00000487664.5:c.1281G>T	ENSP00000417851.2:p.Gln427His
ENST00000488444.6:c.1224G>T	ENSP00000419007.3:p.Gln408His
ENST00000490355.6:c.1224G>T	ENSP00000418003.3:p.Gln408His
ENST00000490363.3:n.1100G>T
ENST00000491806.6:c.1224G>T	ENSP00000419086.3:p.Gln408His
ENST00000628528.2:c.1146G>T	ENSP00000486374.1:p.Gln382His
ENST00000630792.2:c.1122G>T	ENSP00000486486.1:p.Gln374His
ENST00000631073.2:c.1224G>T	ENSP00000486130.1:p.Gln408His
NM_001272003.1:c.1146G>T	NP_001258932.1:p.Gln382His
NM_020822.2:c.1281G>T	NP_065873.2:p.Gln427His
XM_011518877.1:c.1416G>T	XP_011517179.1:p.Gln472His
XM_011518878.1:c.1425G>T	XP_011517180.1:p.Gln475His
XM_011518879.1:c.1416G>T	XP_011517181.1:p.Gln472His
XM_011518880.1:c.1182G>T	XP_011517182.1:p.Gln394His
XM_011518881.1:c.771G>T	XP_011517183.1:p.Gln257His
XM_011518877.3:c.1416G>T	XP_011517179.1:p.Gln472His
XM_011518878.3:c.1425G>T	XP_011517180.1:p.Gln475His
XM_011518879.3:c.1416G>T	XP_011517181.1:p.Gln472His
XM_011518881.3:c.771G>T	XP_011517183.1:p.Gln257His
XM_017014931.1:c.1215G>T	XP_016870420.1:p.Gln405His
XM_017014932.1:c.1038G>T	XP_016870421.1:p.Gln346His
XM_017014933.1:c.771G>T	XP_016870422.1:p.Gln257His
XM_024447617.1:c.771G>T	XP_024303385.1:p.Gln257His
XM_024447618.1:c.771G>T	XP_024303386.1:p.Gln257His
NM_020822.3:c.1281G>T MANE Select	NP_065873.2:p.Gln427His
NM_001272003.2:c.1146G>T	NP_001258932.1:p.Gln382His