Canonical Allele Identifier: CA5326313

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 261362
• ClinVar RCV Id: RCV000246146 ; RCV001513763 ; RCV001683099 ; RCV001730639 ; RCV001730640
• dbSNP Id: rs141291153
• ExAC: 9:138606581 C / CGG
• gnomAD v2: 9-138606581-C-CGG
• gnomAD v3: 9-135714735-C-CGG
• gnomAD v4: 9-135714735-C-CGG
• COSMIC: COSN20053024
• MyVariant Identifiers: chr9:g.138606584_138606585dupGG (hg19) ; chr9:g.138606585_138606586insGG (hg19) ; chr9:g.138606581_138606582insGG (hg19) ; chr9:g.135714738_135714739dupGG (hg38) ; chr9:g.135714739_135714740insGG (hg38) ; chr9:g.135714735_135714736insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135714738_135714739dup , CM000671.2:g.135714738_135714739dup	GRCh38
NC_000009.11:g.138606584_138606585dup , CM000671.1:g.138606584_138606585dup	GRCh37
NC_000009.10:g.137746405_137746406dup	NCBI36
NG_033070.1:g.17554_17555dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.254+18_254+19dup MANE Select	ENSP00000360822.2:n.254+18_254+19dup
ENST00000674572.1:c.95+18_95+19dup	ENSP00000501742.1:n.95+18_95+19dup
ENST00000371757.6:c.254+18_254+19dup	ENSP00000360822.2:n.254+18_254+19dup
ENST00000460750.5:c.254+18_254+19dup	ENSP00000418777.1:n.254+18_254+19dup
ENST00000473941.5:c.95+18_95+19dup	ENSP00000420764.1:n.95+18_95+19dup
ENST00000486577.6:c.95+18_95+19dup	ENSP00000417578.3:n.95+18_95+19dup
ENST00000487664.5:c.254+18_254+19dup	ENSP00000417851.2:n.254+18_254+19dup
ENST00000628528.2:c.110+12370_110+12371dup	ENSP00000486374.1:n.110+12370_110+12371du...
ENST00000630792.2:c.95+18_95+19dup	ENSP00000486486.1:n.95+18_95+19dup
NM_001272003.1:c.110+12370_110+12371dup	NP_001258932.1:n.110+12370_110+12371dup
NM_020822.2:c.254+18_254+19dup	NP_065873.2:n.254+18_254+19dup
XM_011518877.1:c.389+18_389+19dup	XP_011517179.1:n.389+18_389+19dup
XM_011518878.1:c.389+18_389+19dup	XP_011517180.1:n.389+18_389+19dup
XM_011518879.1:c.389+18_389+19dup	XP_011517181.1:n.389+18_389+19dup
XM_011518877.3:c.389+18_389+19dup	XP_011517179.1:n.389+18_389+19dup
XM_011518878.3:c.389+18_389+19dup	XP_011517180.1:n.389+18_389+19dup
XM_011518879.3:c.389+18_389+19dup	XP_011517181.1:n.389+18_389+19dup
NM_020822.3:c.254+18_254+19dup MANE Select	NP_065873.2:n.254+18_254+19dup
NM_001272003.2:c.110+12370_110+12371dup	NP_001258932.1:n.110+12370_110+12371dup