Canonical Allele Identifier: CA995487070
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1438822
ClinVar RCV Id: RCV001934372
dbSNP Id: rs1973192389
gnomAD v3: 19-35849259-AG-A
gnomAD v4: 19-35849259-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849262del , CM000681.2:g.35849262del GRCh38
NC_000019.9:g.36340164del , CM000681.1:g.36340164del GRCh37
NC_000019.8:g.41032004del NCBI36
NG_013356.2:g.25028del , LRG_693:g.25028del
NG_051206.1:g.2628del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.816del MANE Select ENSP00000368190.4:p.Leu273Ter
ENST00000353632.6:c.816del ENSP00000343634.5:p.Leu273Ter
ENST00000378910.9:c.816del ENSP00000368190.4:p.Leu273Ter
NM_004646.3:c.816del , LRG_693t1:c.816del NP_004637.1:p.Leu273Ter
NM_004646.4:c.816del MANE Select NP_004637.1:p.Leu273Ter
Search 100 bp 5'
Search 100 bp 3'