Canonical Allele Identifier: CA1267289

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 1006647
• ClinVar RCV Id: RCV001303724
• dbSNP Id: rs771625593
• ExAC: 1:179544747 C / T
• gnomAD v2: 1-179544747-C-T
• gnomAD v4: 1-179575612-C-T
• MyVariant Identifiers: chr1:g.179544747C>T (hg19) ; chr1:g.179575612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575612C>T , CM000663.2:g.179575612C>T	GRCh38
NC_000001.10:g.179544747C>T , CM000663.1:g.179544747C>T	GRCh37
NC_000001.9:g.177811370C>T	NCBI36
NG_007535.1:g.5338G>A , LRG_887:g.5338G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.253G>A MANE Select	ENSP00000356587.4:p.Glu85Lys
ENST00000367615.8:c.253G>A	ENSP00000356587.4:p.Glu85Lys
ENST00000367616.4:c.253G>A	ENSP00000356588.4:p.Glu85Lys
NM_001297575.1:c.253G>A	NP_001284504.1:p.Glu85Lys
NM_014625.3:c.253G>A , LRG_887t1:c.253G>A	NP_055440.1:p.Glu85Lys
XM_005245483.2:c.253G>A	XP_005245540.1:p.Glu85Lys
XM_006711529.2:c.253G>A	XP_006711592.1:p.Glu85Lys
XM_005245483.3:c.253G>A	XP_005245540.1:p.Glu85Lys
XM_017002298.1:c.253G>A	XP_016857787.1:p.Glu85Lys
XM_017002299.1:c.253G>A	XP_016857788.1:p.Glu85Lys
NM_001297575.2:c.253G>A	NP_001284504.1:p.Glu85Lys
NM_014625.4:c.253G>A MANE Select	NP_055440.1:p.Glu85Lys