Canonical Allele Identifier: CA250197
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56479
ClinVar RCV Id: RCV000049892 RCV001853055
dbSNP Id: rs386833918
gnomAD v4: 19-35842271-TG-T
MyVariant Identifiers: chr19:g.36333174del (hg19) chr19:g.35842272del (hg38)
PubMed: PMID:19321760
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842277del , CM000681.2:g.35842277del GRCh38
NC_000019.9:g.36333179del , CM000681.1:g.36333179del GRCh37
NC_000019.8:g.41025019del NCBI36
NG_013356.2:g.32016del , LRG_693:g.32016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2515del MANE Select ENSP00000368190.4:p.Gln839ArgfsTer8
ENST00000353632.6:c.2515del ENSP00000343634.5:p.Gln839ArgfsTer8
ENST00000378910.9:c.2515del ENSP00000368190.4:p.Gln839ArgfsTer8
NM_004646.3:c.2515del , LRG_693t1:c.2515del NP_004637.1:p.Gln839ArgfsTer8
NM_004646.4:c.2515del MANE Select NP_004637.1:p.Gln839ArgfsTer8
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