Canonical Allele Identifier: CA9390546
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 747664
ClinVar RCV Id: RCV000924391 RCV002488002
dbSNP Id: rs547598963
ExAC: 19:36339596 C / G
gnomAD v2: 19-36339596-C-G
gnomAD v3: 19-35848694-C-G
gnomAD v4: 19-35848694-C-G
MyVariant Identifiers: chr19:g.36339596C>G (hg19) chr19:g.35848694C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848694C>G , CM000681.2:g.35848694C>G GRCh38
NC_000019.9:g.36339596C>G , CM000681.1:g.36339596C>G GRCh37
NC_000019.8:g.41031436C>G NCBI36
NG_013356.2:g.25594G>C , LRG_693:g.25594G>C
NG_051206.1:g.2060C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1113G>C MANE Select ENSP00000368190.4:p.Leu371=
ENST00000353632.6:c.1113G>C ENSP00000343634.5:p.Leu371=
ENST00000378910.9:c.1113G>C ENSP00000368190.4:p.Leu371=
ENST00000592132.1:n.120G>C
NM_004646.3:c.1113G>C , LRG_693t1:c.1113G>C NP_004637.1:p.Leu371=
NM_004646.4:c.1113G>C MANE Select NP_004637.1:p.Leu371=
Search 100 bp 5'
Search 100 bp 3'