Canonical Allele Identifier: CA881819541
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 843023
ClinVar RCV Id: RCV001045551 RCV001329942
dbSNP Id: rs1161720919
gnomAD v3: 19-35848332-AC-A
gnomAD v4: 19-35848332-AC-A
MyVariant Identifiers: chr19:g.36339235del (hg19) chr19:g.35848333del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848334del , CM000681.2:g.35848334del GRCh38
NC_000019.9:g.36339236del , CM000681.1:g.36339236del GRCh37
NC_000019.8:g.41031076del NCBI36
NG_013356.2:g.25955del , LRG_693:g.25955del
NG_051206.1:g.1700del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1235del MANE Select ENSP00000368190.4:p.Gly412ValfsTer2
ENST00000353632.6:c.1235del ENSP00000343634.5:p.Gly412ValfsTer2
ENST00000378910.9:c.1235del ENSP00000368190.4:p.Gly412ValfsTer2
ENST00000592132.1:n.242del
NM_004646.3:c.1235del , LRG_693t1:c.1235del NP_004637.1:p.Gly412ValfsTer2
NM_004646.4:c.1235del MANE Select NP_004637.1:p.Gly412ValfsTer2
Search 100 bp 5'
Search 100 bp 3'