Canonical Allele Identifier: CA1267292

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 3201679
• ClinVar RCV Id: RCV004491024
• dbSNP Id: rs760160509
• ExAC: 1:179544777 C / T
• gnomAD v2: 1-179544777-C-T
• gnomAD v3: 1-179575642-C-T
• gnomAD v4: 1-179575642-C-T
• COSMIC: COSM6224790
• MyVariant Identifiers: chr1:g.179544777C>T (hg19) ; chr1:g.179575642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575642C>T , CM000663.2:g.179575642C>T	GRCh38
NC_000001.10:g.179544777C>T , CM000663.1:g.179544777C>T	GRCh37
NC_000001.9:g.177811400C>T	NCBI36
NG_007535.1:g.5308G>A , LRG_887:g.5308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.223G>A MANE Select	ENSP00000356587.4:p.Glu75Lys
ENST00000367615.8:c.223G>A	ENSP00000356587.4:p.Glu75Lys
ENST00000367616.4:c.223G>A	ENSP00000356588.4:p.Glu75Lys
NM_001297575.1:c.223G>A	NP_001284504.1:p.Glu75Lys
NM_014625.3:c.223G>A , LRG_887t1:c.223G>A	NP_055440.1:p.Glu75Lys
XM_005245483.2:c.223G>A	XP_005245540.1:p.Glu75Lys
XM_006711529.2:c.223G>A	XP_006711592.1:p.Glu75Lys
XM_005245483.3:c.223G>A	XP_005245540.1:p.Glu75Lys
XM_017002298.1:c.223G>A	XP_016857787.1:p.Glu75Lys
XM_017002299.1:c.223G>A	XP_016857788.1:p.Glu75Lys
NM_001297575.2:c.223G>A	NP_001284504.1:p.Glu75Lys
NM_014625.4:c.223G>A MANE Select	NP_055440.1:p.Glu75Lys