Canonical Allele Identifier: CA1267303

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 1555492
• ClinVar RCV Id: RCV002193009
• dbSNP Id: rs201106340
• ExAC: 1:179544824 G / T
• gnomAD v2: 1-179544824-G-T
• gnomAD v3: 1-179575689-G-T
• gnomAD v4: 1-179575689-G-T
• MyVariant Identifiers: chr1:g.179544824G>T (hg19) ; chr1:g.179575689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575689G>T , CM000663.2:g.179575689G>T	GRCh38
NC_000001.10:g.179544824G>T , CM000663.1:g.179544824G>T	GRCh37
NC_000001.9:g.177811447G>T	NCBI36
NG_007535.1:g.5261C>A , LRG_887:g.5261C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.176C>A MANE Select	ENSP00000356587.4:p.Ala59Glu
ENST00000367615.8:c.176C>A	ENSP00000356587.4:p.Ala59Glu
ENST00000367616.4:c.176C>A	ENSP00000356588.4:p.Ala59Glu
NM_001297575.1:c.176C>A	NP_001284504.1:p.Ala59Glu
NM_014625.3:c.176C>A , LRG_887t1:c.176C>A	NP_055440.1:p.Ala59Glu
XM_005245483.2:c.176C>A	XP_005245540.1:p.Ala59Glu
XM_006711529.2:c.176C>A	XP_006711592.1:p.Ala59Glu
XM_005245483.3:c.176C>A	XP_005245540.1:p.Ala59Glu
XM_017002298.1:c.176C>A	XP_016857787.1:p.Ala59Glu
XM_017002299.1:c.176C>A	XP_016857788.1:p.Ala59Glu
NM_001297575.2:c.176C>A	NP_001284504.1:p.Ala59Glu
NM_014625.4:c.176C>A MANE Select	NP_055440.1:p.Ala59Glu