Canonical Allele Identifier: CA9390606

Gene: NPHS1

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

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