Canonical Allele Identifier: CA9390606
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328874
ClinVar RCV Id: RCV000319702 RCV001859938 RCV003114489
dbSNP Id: rs753476209
ExAC: 19:36339995 G / A
gnomAD v2: 19-36339995-G-A
gnomAD v3: 19-35849093-G-A
gnomAD v4: 19-35849093-G-A
MyVariant Identifiers: chr19:g.36339995G>A (hg19) chr19:g.35849093G>A (hg38)
PubMed: PMID:20172850
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849093G>A , CM000681.2:g.35849093G>A GRCh38
NC_000019.9:g.36339995G>A , CM000681.1:g.36339995G>A GRCh37
NC_000019.8:g.41031835G>A NCBI36
NG_013356.2:g.25195C>T , LRG_693:g.25195C>T
NG_051206.1:g.2459G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.895C>T MANE Select ENSP00000368190.4:p.Arg299Cys
ENST00000353632.6:c.895C>T ENSP00000343634.5:p.Arg299Cys
ENST00000378910.9:c.895C>T ENSP00000368190.4:p.Arg299Cys
NM_004646.3:c.895C>T , LRG_693t1:c.895C>T NP_004637.1:p.Arg299Cys
NM_004646.4:c.895C>T MANE Select NP_004637.1:p.Arg299Cys
Search 100 bp 5'
Search 100 bp 3'