Canonical Allele Identifier: CA250114
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56435
ClinVar RCV Id: RCV000049848 RCV003556132
dbSNP Id: rs386833877
MyVariant Identifiers: chr19:g.36339178dupT (hg19) chr19:g.36339177_36339178insT (hg19) chr19:g.35848276dupT (hg38) chr19:g.35848275_35848276insT (hg38)
PubMed: PMID:11854170
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848277dup , CM000681.2:g.35848277dup GRCh38
NC_000019.9:g.36339179dup , CM000681.1:g.36339179dup GRCh37
NC_000019.8:g.41031019dup NCBI36
NG_013356.2:g.26012dup , LRG_693:g.26012dup
NG_051206.1:g.1643dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1292dup MANE Select ENSP00000368190.4:p.Ser432ValfsTer16
ENST00000353632.6:c.1292dup ENSP00000343634.5:p.Ser432ValfsTer16
ENST00000378910.9:c.1292dup ENSP00000368190.4:p.Ser432ValfsTer16
ENST00000592132.1:n.299dup
NM_004646.3:c.1292dup , LRG_693t1:c.1292dup NP_004637.1:p.Ser432ValfsTer16
NM_004646.4:c.1292dup MANE Select NP_004637.1:p.Ser432ValfsTer16
Search 100 bp 5'
Search 100 bp 3'