Canonical Allele Identifier: CA5326843

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2091362
• ClinVar RCV Id: RCV003013572
• dbSNP Id: rs368477306
• ExAC: 9:138657592 C / A
• gnomAD v2: 9-138657592-C-A
• gnomAD v4: 9-135765746-C-A
• MyVariant Identifiers: chr9:g.138657592C>A (hg19) ; chr9:g.135765746C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765746C>A , CM000671.2:g.135765746C>A	GRCh38
NC_000009.11:g.138657592C>A , CM000671.1:g.138657592C>A	GRCh37
NC_000009.10:g.137797413C>A	NCBI36
NG_033070.1:g.68562C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1323C>A MANE Select	ENSP00000360822.2:p.Asp441Glu
ENST00000636003.1:c.13C>A
ENST00000636995.1:n.50C>A
ENST00000637798.1:n.62C>A
ENST00000674572.1:c.1164C>A	ENSP00000501742.1:p.Asp388Glu
ENST00000675090.1:c.1071C>A	ENSP00000501833.1:p.Asp357Glu
ENST00000675399.1:c.1071C>A	ENSP00000501932.1:p.Asp357Glu
ENST00000676421.1:c.1080C>A	ENSP00000502322.1:p.Asp360Glu
ENST00000263604.5:c.1224C>A	ENSP00000263604.4:p.Asp408Glu
ENST00000371757.6:c.1323C>A	ENSP00000360822.2:p.Asp441Glu
ENST00000460750.5:c.*933C>A	ENSP00000418777.1:n.*933C>A
ENST00000486577.6:c.1206C>A	ENSP00000417578.3:p.Asp402Glu
ENST00000487664.5:c.1323C>A	ENSP00000417851.2:p.Asp441Glu
ENST00000488444.6:c.1266C>A	ENSP00000419007.3:p.Asp422Glu
ENST00000490355.6:c.1266C>A	ENSP00000418003.3:p.Asp422Glu
ENST00000490363.3:n.1142C>A
ENST00000491806.6:c.1266C>A	ENSP00000419086.3:p.Asp422Glu
ENST00000628528.2:c.1188C>A	ENSP00000486374.1:p.Asp396Glu
ENST00000630792.2:c.1164C>A	ENSP00000486486.1:p.Asp388Glu
ENST00000631073.2:c.1266C>A	ENSP00000486130.1:p.Asp422Glu
NM_001272003.1:c.1188C>A	NP_001258932.1:p.Asp396Glu
NM_020822.2:c.1323C>A	NP_065873.2:p.Asp441Glu
XM_011518877.1:c.1458C>A	XP_011517179.1:p.Asp486Glu
XM_011518878.1:c.1467C>A	XP_011517180.1:p.Asp489Glu
XM_011518879.1:c.1458C>A	XP_011517181.1:p.Asp486Glu
XM_011518880.1:c.1224C>A	XP_011517182.1:p.Asp408Glu
XM_011518881.1:c.813C>A	XP_011517183.1:p.Asp271Glu
XM_011518877.3:c.1458C>A	XP_011517179.1:p.Asp486Glu
XM_011518878.3:c.1467C>A	XP_011517180.1:p.Asp489Glu
XM_011518879.3:c.1458C>A	XP_011517181.1:p.Asp486Glu
XM_011518881.3:c.813C>A	XP_011517183.1:p.Asp271Glu
XM_017014931.1:c.1257C>A	XP_016870420.1:p.Asp419Glu
XM_017014932.1:c.1080C>A	XP_016870421.1:p.Asp360Glu
XM_017014933.1:c.813C>A	XP_016870422.1:p.Asp271Glu
XM_024447617.1:c.813C>A	XP_024303385.1:p.Asp271Glu
XM_024447618.1:c.813C>A	XP_024303386.1:p.Asp271Glu
NM_020822.3:c.1323C>A MANE Select	NP_065873.2:p.Asp441Glu
NM_001272003.2:c.1188C>A	NP_001258932.1:p.Asp396Glu