Canonical Allele Identifier: CA250273

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56522
• ClinVar RCV Id: RCV000049935 ; RCV000996847 ; RCV002281898
• dbSNP Id: rs386833960
• ExAC: 19:36340212 G / A
• gnomAD v2: 19-36340212-G-A
• gnomAD v3: 19-35849310-G-A
• gnomAD v4: 19-35849310-G-A
• MyVariant Identifiers: chr19:g.36340212G>A (hg19) ; chr19:g.35849310G>A (hg38)
• PubMed: PMID:18503012

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849310G>A , CM000681.2:g.35849310G>A	GRCh38
NC_000019.9:g.36340212G>A , CM000681.1:g.36340212G>A	GRCh37
NC_000019.8:g.41032052G>A	NCBI36
NG_013356.2:g.24978C>T , LRG_693:g.24978C>T
NG_051206.1:g.2676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.766C>T MANE Select	ENSP00000368190.4:p.Arg256Trp
ENST00000353632.6:c.766C>T	ENSP00000343634.5:p.Arg256Trp
ENST00000378910.9:c.766C>T	ENSP00000368190.4:p.Arg256Trp
NM_004646.3:c.766C>T , LRG_693t1:c.766C>T	NP_004637.1:p.Arg256Trp
NM_004646.4:c.766C>T MANE Select	NP_004637.1:p.Arg256Trp