Canonical Allele Identifier: CA250165
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56460
ClinVar RCV Id: RCV000049873 RCV001376868 RCV003407432
dbSNP Id: rs386833901
gnomAD v4: 19-35844317-A-G
MyVariant Identifiers: chr19:g.36335219A>G (hg19) chr19:g.35844317A>G (hg38)
PubMed: PMID:11317351
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35844317A>G , CM000681.2:g.35844317A>G GRCh38
NC_000019.9:g.36335219A>G , CM000681.1:g.36335219A>G GRCh37
NC_000019.8:g.41027059A>G NCBI36
NG_013356.2:g.29971T>C , LRG_693:g.29971T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2071+2T>C MANE Select ENSP00000368190.4:n.2071+2T>C
ENST00000353632.6:c.2071+2T>C ENSP00000343634.5:n.2071+2T>C
ENST00000378910.9:c.2071+2T>C ENSP00000368190.4:n.2071+2T>C
ENST00000585400.1:n.253+2T>C
NM_004646.3:c.2071+2T>C , LRG_693t1:c.2071+2T>C NP_004637.1:n.2071+2T>C
NM_004646.4:c.2071+2T>C MANE Select NP_004637.1:n.2071+2T>C
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