Canonical Allele Identifier: CA250085

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56420
• ClinVar RCV Id: RCV000049833 ; RCV001065065
• dbSNP Id: rs386833864
• gnomAD v2: 19-36339613-T-G
• gnomAD v3: 19-35848711-T-G
• gnomAD v4: 19-35848711-T-G
• MyVariant Identifiers: chr19:g.36339613T>G (hg19) ; chr19:g.35848711T>G (hg38)
• PubMed: PMID:9915943 ; PMID:20172850

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848711T>G , CM000681.2:g.35848711T>G	GRCh38
NC_000019.9:g.36339613T>G , CM000681.1:g.36339613T>G	GRCh37
NC_000019.8:g.41031453T>G	NCBI36
NG_013356.2:g.25577A>C , LRG_693:g.25577A>C
NG_051206.1:g.2077T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1096A>C MANE Select	ENSP00000368190.4:p.Ser366Arg
ENST00000353632.6:c.1096A>C	ENSP00000343634.5:p.Ser366Arg
ENST00000378910.9:c.1096A>C	ENSP00000368190.4:p.Ser366Arg
ENST00000592132.1:n.103A>C
NM_004646.3:c.1096A>C , LRG_693t1:c.1096A>C	NP_004637.1:p.Ser366Arg
NM_004646.4:c.1096A>C MANE Select	NP_004637.1:p.Ser366Arg