Canonical Allele Identifier: CA250115
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56436
ClinVar RCV Id: RCV000049849 RCV002513689
dbSNP Id: rs386833878
gnomAD v2: 19-36339161-C-CGT
gnomAD v4: 19-35848259-C-CGT
MyVariant Identifiers: chr19:g.36339162_36339163dupGT (hg19) chr19:g.36339161_36339162insGT (hg19) chr19:g.35848260_35848261dupGT (hg38) chr19:g.35848259_35848260insGT (hg38)
PubMed: PMID:9660941 PMID:11317351 PMID:18503012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848260_35848261dup , CM000681.2:g.35848260_35848261dup GRCh38
NC_000019.9:g.36339162_36339163dup , CM000681.1:g.36339162_36339163dup GRCh37
NC_000019.8:g.41031002_41031003dup NCBI36
NG_013356.2:g.26027_26028dup , LRG_693:g.26027_26028dup
NG_051206.1:g.1626_1627dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1307_1308dup MANE Select ENSP00000368190.4:p.Val437ThrfsTer2
ENST00000353632.6:c.1307_1308dup ENSP00000343634.5:p.Val437ThrfsTer2
ENST00000378910.9:c.1307_1308dup ENSP00000368190.4:p.Val437ThrfsTer2
ENST00000592132.1:n.314_315dup
NM_004646.3:c.1307_1308dup , LRG_693t1:c.1307_1308dup NP_004637.1:p.Val437ThrfsTer2
NM_004646.4:c.1307_1308dup MANE Select NP_004637.1:p.Val437ThrfsTer2
Search 100 bp 5'
Search 100 bp 3'