Canonical Allele Identifier: CA5327659

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 412313
• ClinVar RCV Id: RCV000458637
• dbSNP Id: rs537379253
• ExAC: 9:138677162 G / A
• gnomAD v2: 9-138677162-G-A
• gnomAD v3: 9-135785316-G-A
• gnomAD v4: 9-135785316-G-A
• MyVariant Identifiers: chr9:g.138677162G>A (hg19) ; chr9:g.135785316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135785316G>A , CM000671.2:g.135785316G>A	GRCh38
NC_000009.11:g.138677162G>A , CM000671.1:g.138677162G>A	GRCh37
NC_000009.10:g.137816983G>A	NCBI36
NG_033070.1:g.88132G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3163G>A MANE Select	ENSP00000360822.2:p.Asp1055Asn
ENST00000674572.1:c.3004G>A	ENSP00000501742.1:p.Asp1002Asn
ENST00000675090.1:c.2911G>A	ENSP00000501833.1:p.Asp971Asn
ENST00000675399.1:c.2911G>A	ENSP00000501932.1:p.Asp971Asn
ENST00000676421.1:c.2920G>A	ENSP00000502322.1:p.Asp974Asn
ENST00000263604.5:c.3064G>A	ENSP00000263604.4:p.Asp1022Asn
ENST00000371757.6:c.3163G>A	ENSP00000360822.2:p.Asp1055Asn
ENST00000460750.5:c.*2773G>A	ENSP00000418777.1:n.*2773G>A
ENST00000486577.6:c.3046G>A	ENSP00000417578.3:p.Asp1016Asn
ENST00000487664.5:c.3163G>A	ENSP00000417851.2:p.Asp1055Asn
ENST00000488444.6:c.3099+427G>A	ENSP00000419007.3:n.3099+427G>A
ENST00000490355.6:c.3100G>A	ENSP00000418003.3:p.Asp1034Asn
ENST00000490363.3:n.2982G>A
ENST00000491806.6:c.3106G>A	ENSP00000419086.3:p.Asp1036Asn
ENST00000628528.2:c.3028G>A	ENSP00000486374.1:p.Asp1010Asn
ENST00000630792.2:c.2998G>A	ENSP00000486486.1:p.Asp1000Asn
ENST00000631073.2:c.3106G>A	ENSP00000486130.1:p.Asp1036Asn
NM_001272003.1:c.3028G>A	NP_001258932.1:p.Asp1010Asn
NM_020822.2:c.3163G>A	NP_065873.2:p.Asp1055Asn
XM_011518877.1:c.3298G>A	XP_011517179.1:p.Asp1100Asn
XM_011518878.1:c.3307G>A	XP_011517180.1:p.Asp1103Asn
XM_011518879.1:c.3298G>A	XP_011517181.1:p.Asp1100Asn
XM_011518880.1:c.3064G>A	XP_011517182.1:p.Asp1022Asn
XM_011518881.1:c.2653G>A	XP_011517183.1:p.Asp885Asn
XM_011518877.3:c.3298G>A	XP_011517179.1:p.Asp1100Asn
XM_011518878.3:c.3307G>A	XP_011517180.1:p.Asp1103Asn
XM_011518879.3:c.3298G>A	XP_011517181.1:p.Asp1100Asn
XM_011518881.3:c.2653G>A	XP_011517183.1:p.Asp885Asn
XM_017014931.1:c.3097G>A	XP_016870420.1:p.Asp1033Asn
XM_017014932.1:c.2920G>A	XP_016870421.1:p.Asp974Asn
XM_017014933.1:c.2653G>A	XP_016870422.1:p.Asp885Asn
XM_024447617.1:c.2653G>A	XP_024303385.1:p.Asp885Asn
XM_024447618.1:c.2653G>A	XP_024303386.1:p.Asp885Asn
NM_020822.3:c.3163G>A MANE Select	NP_065873.2:p.Asp1055Asn
NM_001272003.2:c.3028G>A	NP_001258932.1:p.Asp1010Asn