Canonical Allele Identifier: CA250116

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56437
• ClinVar RCV Id: RCV000049850 ; RCV002513690
• dbSNP Id: rs386833879
• ExAC: 19:36339046 A / T
• gnomAD v2: 19-36339046-A-T
• gnomAD v3: 19-35848144-A-T
• gnomAD v4: 19-35848144-A-T
• MyVariant Identifiers: chr19:g.36339046A>T (hg19) ; chr19:g.35848144A>T (hg38)
• PubMed: PMID:11854170 ; PMID:20507940 ; PMID:26560236

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848144A>T , CM000681.2:g.35848144A>T	GRCh38
NC_000019.9:g.36339046A>T , CM000681.1:g.36339046A>T	GRCh37
NC_000019.8:g.41030886A>T	NCBI36
NG_013356.2:g.26144T>A , LRG_693:g.26144T>A
NG_051206.1:g.1510A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1337T>A MANE Select	ENSP00000368190.4:p.Ile446Asn
ENST00000353632.6:c.1337T>A	ENSP00000343634.5:p.Ile446Asn
ENST00000378910.9:c.1337T>A	ENSP00000368190.4:p.Ile446Asn
ENST00000592132.1:n.344T>A
NM_004646.3:c.1337T>A , LRG_693t1:c.1337T>A	NP_004637.1:p.Ile446Asn
NM_004646.4:c.1337T>A MANE Select	NP_004637.1:p.Ile446Asn