Canonical Allele Identifier: CA9390512
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259481
ClinVar RCV Id: RCV000248554 RCV000712419 RCV001124715 RCV002294137
dbSNP Id: rs34320609
ExAC: 19:36339295 A / G
gnomAD v2: 19-36339295-A-G
gnomAD v3: 19-35848393-A-G
gnomAD v4: 19-35848393-A-G
MyVariant Identifiers: chr19:g.36339295A>G (hg19) chr19:g.35848393A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848393A>G , CM000681.2:g.35848393A>G GRCh38
NC_000019.9:g.36339295A>G , CM000681.1:g.36339295A>G GRCh37
NC_000019.8:g.41031135A>G NCBI36
NG_013356.2:g.25895T>C , LRG_693:g.25895T>C
NG_051206.1:g.1759A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1175T>C MANE Select ENSP00000368190.4:p.Leu392Pro
ENST00000353632.6:c.1175T>C ENSP00000343634.5:p.Leu392Pro
ENST00000378910.9:c.1175T>C ENSP00000368190.4:p.Leu392Pro
ENST00000592132.1:n.182T>C
NM_004646.3:c.1175T>C , LRG_693t1:c.1175T>C NP_004637.1:p.Leu392Pro
NM_004646.4:c.1175T>C MANE Select NP_004637.1:p.Leu392Pro
Search 100 bp 5'
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