Canonical Allele Identifier: CA117456

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 5367
• ClinVar RCV Id: RCV000005698
• dbSNP Id: rs74315346
• MyVariant Identifiers: chr1:g.179528869T>C (hg19) ; chr1:g.179559734T>C (hg38)
• PubMed: PMID:10742096

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559734T>C , CM000663.2:g.179559734T>C	GRCh38
NC_000001.10:g.179528869T>C , CM000663.1:g.179528869T>C	GRCh37
NC_000001.9:g.177795492T>C	NCBI36
NG_007535.1:g.21216A>G , LRG_887:g.21216A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.479A>G MANE Select	ENSP00000356587.4:p.Asp160Gly
ENST00000367615.8:c.479A>G	ENSP00000356587.4:p.Asp160Gly
ENST00000367616.4:c.479A>G	ENSP00000356588.4:p.Asp160Gly
NM_001297575.1:c.479A>G	NP_001284504.1:p.Asp160Gly
NM_014625.3:c.479A>G , LRG_887t1:c.479A>G	NP_055440.1:p.Asp160Gly
XM_005245483.2:c.302A>G	XP_005245540.1:p.Asp101Gly
XM_006711529.2:c.479A>G	XP_006711592.1:p.Asp160Gly
XM_005245483.3:c.302A>G	XP_005245540.1:p.Asp101Gly
XM_017002298.1:c.406A>G	XP_016857787.1:p.Ile136Val
XM_017002299.1:c.479A>G	XP_016857788.1:p.Asp160Gly
NM_001297575.2:c.479A>G	NP_001284504.1:p.Asp160Gly
NM_014625.4:c.479A>G MANE Select	NP_055440.1:p.Asp160Gly