Canonical Allele Identifier: CA250245
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56508
ClinVar RCV Id: RCV000049921
dbSNP Id: rs386833946
MyVariant Identifiers: chr19:g.36341877A>T (hg19) chr19:g.35850975A>T (hg38)
PubMed: PMID:9915943
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850975A>T , CM000681.2:g.35850975A>T GRCh38
NC_000019.9:g.36341877A>T , CM000681.1:g.36341877A>T GRCh37
NC_000019.8:g.41033717A>T NCBI36
NG_013356.2:g.23313T>A , LRG_693:g.23313T>A
NG_051206.1:g.4341A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.512T>A MANE Select ENSP00000368190.4:p.Ile171Asn
ENST00000353632.6:c.512T>A ENSP00000343634.5:p.Ile171Asn
ENST00000378910.9:c.512T>A ENSP00000368190.4:p.Ile171Asn
NM_004646.3:c.512T>A , LRG_693t1:c.512T>A NP_004637.1:p.Ile171Asn
NM_004646.4:c.512T>A MANE Select NP_004637.1:p.Ile171Asn
Search 100 bp 5'
Search 100 bp 3'