Canonical Allele Identifier: CA10652376
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328870
ClinVar RCV Id: RCV000271950
dbSNP Id: rs886054351
gnomAD v2: 19-36336939-A-G
gnomAD v3: 19-35846037-A-G
gnomAD v4: 19-35846037-A-G
MyVariant Identifiers: chr19:g.36336939A>G (hg19) chr19:g.35846037A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846037A>G , CM000681.2:g.35846037A>G GRCh38
NC_000019.9:g.36336939A>G , CM000681.1:g.36336939A>G GRCh37
NC_000019.8:g.41028779A>G NCBI36
NG_013356.2:g.28251T>C , LRG_693:g.28251T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1598T>C MANE Select ENSP00000368190.4:p.Leu533Pro
ENST00000353632.6:c.1598T>C ENSP00000343634.5:p.Leu533Pro
ENST00000378910.9:c.1598T>C ENSP00000368190.4:p.Leu533Pro
NM_004646.3:c.1598T>C , LRG_693t1:c.1598T>C NP_004637.1:p.Leu533Pro
NM_004646.4:c.1598T>C MANE Select NP_004637.1:p.Leu533Pro
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