Canonical Allele Identifier: CA9390498

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 259482
• ClinVar RCV Id: RCV000251573 ; RCV000277714 ; RCV000712420 ; RCV001094492 ; RCV002294138
• dbSNP Id: rs33950747
• ExAC: 19:36339247 C / T
• gnomAD v2: 19-36339247-C-T
• gnomAD v3: 19-35848345-C-T
• gnomAD v4: 19-35848345-C-T
• MyVariant Identifiers: chr19:g.36339247C>T (hg19) ; chr19:g.35848345C>T (hg38)
• PubMed: PMID:9915943 ; PMID:15086927 ; PMID:19812541 ; PMID:20172850 ; PMID:20507940 ; PMID:20798252

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848345C>T , CM000681.2:g.35848345C>T	GRCh38
NC_000019.9:g.36339247C>T , CM000681.1:g.36339247C>T	GRCh37
NC_000019.8:g.41031087C>T	NCBI36
NG_013356.2:g.25943G>A , LRG_693:g.25943G>A
NG_051206.1:g.1711C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1223G>A MANE Select	ENSP00000368190.4:p.Arg408Gln
ENST00000353632.6:c.1223G>A	ENSP00000343634.5:p.Arg408Gln
ENST00000378910.9:c.1223G>A	ENSP00000368190.4:p.Arg408Gln
ENST00000592132.1:n.230G>A
NM_004646.3:c.1223G>A , LRG_693t1:c.1223G>A	NP_004637.1:p.Arg408Gln
NM_004646.4:c.1223G>A MANE Select	NP_004637.1:p.Arg408Gln