Canonical Allele Identifier: CA250040
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6874
ClinVar RCV Id: RCV000007277
dbSNP Id: rs267606917
MyVariant Identifiers: chr19:g.36340185A>G (hg19) chr19:g.35849283A>G (hg38)
PubMed: PMID:17290294 PMID:19443487
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849283A>G , CM000681.2:g.35849283A>G GRCh38
NC_000019.9:g.36340185A>G , CM000681.1:g.36340185A>G GRCh37
NC_000019.8:g.41032025A>G NCBI36
NG_013356.2:g.25005T>C , LRG_693:g.25005T>C
NG_051206.1:g.2649A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.793T>C MANE Select ENSP00000368190.4:p.Cys265Arg
ENST00000353632.6:c.793T>C ENSP00000343634.5:p.Cys265Arg
ENST00000378910.9:c.793T>C ENSP00000368190.4:p.Cys265Arg
NM_004646.3:c.793T>C , LRG_693t1:c.793T>C NP_004637.1:p.Cys265Arg
NM_004646.4:c.793T>C MANE Select NP_004637.1:p.Cys265Arg
Search 100 bp 5'
Search 100 bp 3'