Canonical Allele Identifier: CA9390759

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 282372
• ClinVar RCV Id: RCV000353631 ; RCV000665656 ; RCV000958774 ; RCV001125723 ; RCV002294214 ; RCV003920050
• dbSNP Id: rs145125791
• ExAC: 19:36341311 T / A
• gnomAD v2: 19-36341311-T-A
• gnomAD v3: 19-35850409-T-A
• gnomAD v4: 19-35850409-T-A
• MyVariant Identifiers: chr19:g.36341311T>A (hg19) ; chr19:g.35850409T>A (hg38)
• PubMed: PMID:11854170 ; PMID:19406966 ; PMID:19812541 ; PMID:20798252 ; PMID:22565185 ; PMID:24130771 ; PMID:24472419 ; PMID:26764160

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850409T>A , CM000681.2:g.35850409T>A	GRCh38
NC_000019.9:g.36341311T>A , CM000681.1:g.36341311T>A	GRCh37
NC_000019.8:g.41033151T>A	NCBI36
NG_013356.2:g.23879A>T , LRG_693:g.23879A>T
NG_051206.1:g.3775T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.563A>T MANE Select	ENSP00000368190.4:p.Asn188Ile
ENST00000353632.6:c.563A>T	ENSP00000343634.5:p.Asn188Ile
ENST00000378910.9:c.563A>T	ENSP00000368190.4:p.Asn188Ile
NM_004646.3:c.563A>T , LRG_693t1:c.563A>T	NP_004637.1:p.Asn188Ile
NM_004646.4:c.563A>T MANE Select	NP_004637.1:p.Asn188Ile