Canonical Allele Identifier: CA250083

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56419
• ClinVar RCV Id: RCV000049832 ; RCV001063172 ; RCV001849301
• dbSNP Id: rs386833863
• ExAC: 19:36339661 A / G
• gnomAD v2: 19-36339661-A-G
• gnomAD v3: 19-35848759-A-G
• gnomAD v4: 19-35848759-A-G
• MyVariant Identifiers: chr19:g.36339661A>G (hg19) ; chr19:g.35848759A>G (hg38)
• PubMed: PMID:9915943 ; PMID:11317351 ; PMID:11726550 ; PMID:15213260 ; PMID:20172850 ; PMID:20507940

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848759A>G , CM000681.2:g.35848759A>G	GRCh38
NC_000019.9:g.36339661A>G , CM000681.1:g.36339661A>G	GRCh37
NC_000019.8:g.41031501A>G	NCBI36
NG_013356.2:g.25529T>C , LRG_693:g.25529T>C
NG_051206.1:g.2125A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1048T>C MANE Select	ENSP00000368190.4:p.Ser350Pro
ENST00000353632.6:c.1048T>C	ENSP00000343634.5:p.Ser350Pro
ENST00000378910.9:c.1048T>C	ENSP00000368190.4:p.Ser350Pro
ENST00000592132.1:n.55T>C
NM_004646.3:c.1048T>C , LRG_693t1:c.1048T>C	NP_004637.1:p.Ser350Pro
NM_004646.4:c.1048T>C MANE Select	NP_004637.1:p.Ser350Pro