Canonical Allele Identifier: CA5327766

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 473384
• ClinVar RCV Id: RCV000544735 ; RCV000592097 ; RCV000727041 ; RCV002324040
• dbSNP Id: rs373041291
• ExAC: 9:138678146 C / T
• gnomAD v2: 9-138678146-C-T
• gnomAD v3: 9-135786300-C-T
• gnomAD v4: 9-135786300-C-T
• MyVariant Identifiers: chr9:g.138678146C>T (hg19) ; chr9:g.135786300C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135786300C>T , CM000671.2:g.135786300C>T	GRCh38
NC_000009.11:g.138678146C>T , CM000671.1:g.138678146C>T	GRCh37
NC_000009.10:g.137817967C>T	NCBI36
NG_033070.1:g.89116C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3281C>T MANE Select	ENSP00000360822.2:p.Thr1094Met
ENST00000674572.1:c.3122C>T	ENSP00000501742.1:p.Thr1041Met
ENST00000675090.1:c.3029C>T	ENSP00000501833.1:p.Thr1010Met
ENST00000675399.1:c.3029C>T	ENSP00000501932.1:p.Thr1010Met
ENST00000676421.1:c.3038C>T	ENSP00000502322.1:p.Thr1013Met
ENST00000263604.5:c.3182C>T	ENSP00000263604.4:p.Thr1061Met
ENST00000371757.6:c.3281C>T	ENSP00000360822.2:p.Thr1094Met
ENST00000460750.5:c.*2891C>T	ENSP00000418777.1:n.*2891C>T
ENST00000486577.6:c.3164C>T	ENSP00000417578.3:p.Thr1055Met
ENST00000487664.5:c.3281C>T	ENSP00000417851.2:p.Thr1094Met
ENST00000488444.6:c.3203C>T	ENSP00000419007.3:p.Thr1068Met
ENST00000490355.6:c.3218C>T	ENSP00000418003.3:p.Thr1073Met
ENST00000490363.3:n.3966C>T
ENST00000491806.6:c.3224C>T	ENSP00000419086.3:p.Thr1075Met
ENST00000628528.2:c.3146C>T	ENSP00000486374.1:p.Thr1049Met
ENST00000630792.2:c.3116C>T	ENSP00000486486.1:p.Thr1039Met
ENST00000631073.2:c.3224C>T	ENSP00000486130.1:p.Thr1075Met
NM_001272003.1:c.3146C>T	NP_001258932.1:p.Thr1049Met
NM_020822.2:c.3281C>T	NP_065873.2:p.Thr1094Met
XM_011518877.1:c.3416C>T	XP_011517179.1:p.Thr1139Met
XM_011518878.1:c.3425C>T	XP_011517180.1:p.Thr1142Met
XM_011518879.1:c.3416C>T	XP_011517181.1:p.Thr1139Met
XM_011518880.1:c.3182C>T	XP_011517182.1:p.Thr1061Met
XM_011518881.1:c.2771C>T	XP_011517183.1:p.Thr924Met
XM_011518877.3:c.3416C>T	XP_011517179.1:p.Thr1139Met
XM_011518878.3:c.3425C>T	XP_011517180.1:p.Thr1142Met
XM_011518879.3:c.3416C>T	XP_011517181.1:p.Thr1139Met
XM_011518881.3:c.2771C>T	XP_011517183.1:p.Thr924Met
XM_017014931.1:c.3215C>T	XP_016870420.1:p.Thr1072Met
XM_017014932.1:c.3038C>T	XP_016870421.1:p.Thr1013Met
XM_017014933.1:c.2771C>T	XP_016870422.1:p.Thr924Met
XM_024447617.1:c.2771C>T	XP_024303385.1:p.Thr924Met
XM_024447618.1:c.2771C>T	XP_024303386.1:p.Thr924Met
NM_020822.3:c.3281C>T MANE Select	NP_065873.2:p.Thr1094Met
NM_001272003.2:c.3146C>T	NP_001258932.1:p.Thr1049Met