Canonical Allele Identifier: CA5326828

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 432748
• ClinVar RCV Id: RCV000498868 ; RCV002524097
• dbSNP Id: rs368174673
• ExAC: 9:138657479 G / A
• gnomAD v2: 9-138657479-G-A
• gnomAD v4: 9-135765633-G-A
• MyVariant Identifiers: chr9:g.138657479G>A (hg19) ; chr9:g.135765633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765633G>A , CM000671.2:g.135765633G>A	GRCh38
NC_000009.11:g.138657479G>A , CM000671.1:g.138657479G>A	GRCh37
NC_000009.10:g.137797300G>A	NCBI36
NG_033070.1:g.68449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1210G>A MANE Select	ENSP00000360822.2:p.Val404Met
ENST00000674572.1:c.1051G>A	ENSP00000501742.1:p.Val351Met
ENST00000675090.1:c.958G>A	ENSP00000501833.1:p.Val320Met
ENST00000675399.1:c.958G>A	ENSP00000501932.1:p.Val320Met
ENST00000676421.1:c.967G>A	ENSP00000502322.1:p.Val323Met
ENST00000263604.5:c.1111G>A	ENSP00000263604.4:p.Val371Met
ENST00000371757.6:c.1210G>A	ENSP00000360822.2:p.Val404Met
ENST00000460750.5:c.*820G>A	ENSP00000418777.1:n.*820G>A
ENST00000486577.6:c.1093G>A	ENSP00000417578.3:p.Val365Met
ENST00000487664.5:c.1210G>A	ENSP00000417851.2:p.Val404Met
ENST00000488444.6:c.1153G>A	ENSP00000419007.3:p.Val385Met
ENST00000490355.6:c.1153G>A	ENSP00000418003.3:p.Val385Met
ENST00000490363.3:n.1029G>A
ENST00000491806.6:c.1153G>A	ENSP00000419086.3:p.Val385Met
ENST00000628528.2:c.1075G>A	ENSP00000486374.1:p.Val359Met
ENST00000630792.2:c.1051G>A	ENSP00000486486.1:p.Val351Met
ENST00000631073.2:c.1153G>A	ENSP00000486130.1:p.Val385Met
NM_001272003.1:c.1075G>A	NP_001258932.1:p.Val359Met
NM_020822.2:c.1210G>A	NP_065873.2:p.Val404Met
XM_011518877.1:c.1345G>A	XP_011517179.1:p.Val449Met
XM_011518878.1:c.1354G>A	XP_011517180.1:p.Val452Met
XM_011518879.1:c.1345G>A	XP_011517181.1:p.Val449Met
XM_011518880.1:c.1111G>A	XP_011517182.1:p.Val371Met
XM_011518881.1:c.700G>A	XP_011517183.1:p.Val234Met
XM_011518877.3:c.1345G>A	XP_011517179.1:p.Val449Met
XM_011518878.3:c.1354G>A	XP_011517180.1:p.Val452Met
XM_011518879.3:c.1345G>A	XP_011517181.1:p.Val449Met
XM_011518881.3:c.700G>A	XP_011517183.1:p.Val234Met
XM_017014931.1:c.1144G>A	XP_016870420.1:p.Val382Met
XM_017014932.1:c.967G>A	XP_016870421.1:p.Val323Met
XM_017014933.1:c.700G>A	XP_016870422.1:p.Val234Met
XM_024447617.1:c.700G>A	XP_024303385.1:p.Val234Met
XM_024447618.1:c.700G>A	XP_024303386.1:p.Val234Met
NM_020822.3:c.1210G>A MANE Select	NP_065873.2:p.Val404Met
NM_001272003.2:c.1075G>A	NP_001258932.1:p.Val359Met