Canonical Allele Identifier: CA375494009

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 854637
• ClinVar RCV Id: RCV001059727
• dbSNP Id: rs773695396
• MyVariant Identifiers: chr9:g.138683701C>A (hg19) ; chr9:g.135791855C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791855C>A , CM000671.2:g.135791855C>A	GRCh38
NC_000009.11:g.138683701C>A , CM000671.1:g.138683701C>A	GRCh37
NC_000009.10:g.137823522C>A	NCBI36
NG_033070.1:g.94671C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3561C>A MANE Select	ENSP00000360822.2:p.Asp1187Glu
ENST00000674572.1:c.3465C>A	ENSP00000501742.1:p.Asp1155Glu
ENST00000675090.1:c.3309C>A	ENSP00000501833.1:p.Asp1103Glu
ENST00000675399.1:c.3372C>A	ENSP00000501932.1:p.Asp1124Glu
ENST00000676421.1:c.3381C>A	ENSP00000502322.1:p.Asp1127Glu
ENST00000263604.5:c.3525C>A	ENSP00000263604.4:p.Asp1175Glu
ENST00000371757.6:c.3561C>A	ENSP00000360822.2:p.Asp1187Glu
ENST00000460750.5:c.*3234C>A	ENSP00000418777.1:n.*3234C>A
ENST00000475008.1:n.2867C>A
ENST00000486577.6:c.3507C>A	ENSP00000417578.3:p.Asp1169Glu
ENST00000487664.5:c.3624C>A	ENSP00000417851.2:p.Asp1208Glu
ENST00000488444.6:c.3546C>A	ENSP00000419007.3:p.Asp1182Glu
ENST00000490355.6:c.3561C>A	ENSP00000418003.3:p.Asp1187Glu
ENST00000491806.6:c.3504C>A	ENSP00000419086.3:p.Asp1168Glu
ENST00000628528.2:c.3489C>A	ENSP00000486374.1:p.Asp1163Glu
ENST00000630792.2:c.3459C>A	ENSP00000486486.1:p.Asp1153Glu
ENST00000631073.2:c.3567C>A	ENSP00000486130.1:p.Asp1189Glu
NM_001272003.1:c.3489C>A	NP_001258932.1:p.Asp1163Glu
NM_020822.2:c.3561C>A	NP_065873.2:p.Asp1187Glu
XM_011518877.1:c.3759C>A	XP_011517179.1:p.Asp1253Glu
XM_011518878.1:c.3705C>A	XP_011517180.1:p.Asp1235Glu
XM_011518879.1:c.3696C>A	XP_011517181.1:p.Asp1232Glu
XM_011518880.1:c.3525C>A	XP_011517182.1:p.Asp1175Glu
XM_011518881.1:c.3114C>A	XP_011517183.1:p.Asp1038Glu
XM_011518877.3:c.3759C>A	XP_011517179.1:p.Asp1253Glu
XM_011518878.3:c.3705C>A	XP_011517180.1:p.Asp1235Glu
XM_011518879.3:c.3696C>A	XP_011517181.1:p.Asp1232Glu
XM_011518881.3:c.3114C>A	XP_011517183.1:p.Asp1038Glu
XM_017014931.1:c.3558C>A	XP_016870420.1:p.Asp1186Glu
XM_017014932.1:c.3381C>A	XP_016870421.1:p.Asp1127Glu
XM_017014933.1:c.3114C>A	XP_016870422.1:p.Asp1038Glu
XM_024447617.1:c.3114C>A	XP_024303385.1:p.Asp1038Glu
XM_024447618.1:c.3114C>A	XP_024303386.1:p.Asp1038Glu
NM_020822.3:c.3561C>A MANE Select	NP_065873.2:p.Asp1187Glu
NM_001272003.2:c.3489C>A	NP_001258932.1:p.Asp1163Glu