Canonical Allele Identifier: CA250226
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56497
ClinVar RCV Id: RCV000049910 RCV000483335 RCV001328317
dbSNP Id: rs386833935
ExAC: 19:36322580 A / AC
gnomAD v2: 19-36322580-A-AC
gnomAD v3: 19-35831678-A-AC
gnomAD v4: 19-35831678-A-AC
MyVariant Identifiers: chr19:g.36322581dupC (hg19) chr19:g.36322581_36322582insC (hg19) chr19:g.36322580_36322581insC (hg19) chr19:g.35831679dupC (hg38) chr19:g.35831679_35831680insC (hg38) chr19:g.35831678_35831679insC (hg38)
PubMed: PMID:9660941 PMID:9915943 PMID:11854170 PMID:18503012 PMID:19194555 PMID:20172850
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35831685dup , CM000681.2:g.35831685dup GRCh38
NC_000019.9:g.36322587dup , CM000681.1:g.36322587dup GRCh37
NC_000019.8:g.41014427dup NCBI36
NG_013356.2:g.42609dup , LRG_693:g.42609dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3250dup MANE Select ENSP00000368190.4:p.Val1084GlyfsTer12
ENST00000353632.6:c.3167-179dup ENSP00000343634.5:n.3167-179dup
ENST00000378910.9:c.3250dup ENSP00000368190.4:p.Val1084GlyfsTer12
NM_004646.3:c.3250dup , LRG_693t1:c.3250dup NP_004637.1:p.Val1084GlyfsTer12
NM_004646.4:c.3250dup MANE Select NP_004637.1:p.Val1084GlyfsTer12
Search 100 bp 5'
Search 100 bp 3'