Canonical Allele Identifier: CA250250
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56510
ClinVar RCV Id: RCV000049923 RCV001853058
dbSNP Id: rs386833948
MyVariant Identifiers: chr19:g.36341873del (hg19) chr19:g.35850971del (hg38)
PubMed: PMID:18614772
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850972del , CM000681.2:g.35850972del GRCh38
NC_000019.9:g.36341874del , CM000681.1:g.36341874del GRCh37
NC_000019.8:g.41033714del NCBI36
NG_013356.2:g.23317del , LRG_693:g.23317del
NG_051206.1:g.4338del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.516del MANE Select ENSP00000368190.4:p.Ile173PhefsTer3
ENST00000353632.6:c.516del ENSP00000343634.5:p.Ile173PhefsTer3
ENST00000378910.9:c.516del ENSP00000368190.4:p.Ile173PhefsTer3
NM_004646.3:c.516del , LRG_693t1:c.516del NP_004637.1:p.Ile173PhefsTer3
NM_004646.4:c.516del MANE Select NP_004637.1:p.Ile173PhefsTer3
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