Canonical Allele Identifier: CA250185

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56473
• ClinVar RCV Id: RCV000049886 ; RCV000712426
• dbSNP Id: rs386833912
• ExAC: 19:36333370 G / T
• gnomAD v2: 19-36333370-G-T
• gnomAD v3: 19-35842468-G-T
• gnomAD v4: 19-35842468-G-T
• MyVariant Identifiers: chr19:g.36333370G>T (hg19) ; chr19:g.35842468G>T (hg38)
• PubMed: PMID:9915943 ; PMID:11726550 ; PMID:20507940 ; PMID:21415313 ; PMID:24742477

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842468G>T , CM000681.2:g.35842468G>T	GRCh38
NC_000019.9:g.36333370G>T , CM000681.1:g.36333370G>T	GRCh37
NC_000019.8:g.41025210G>T	NCBI36
NG_013356.2:g.31820C>A , LRG_693:g.31820C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2417C>A MANE Select	ENSP00000368190.4:p.Ala806Asp
ENST00000353632.6:c.2417C>A	ENSP00000343634.5:p.Ala806Asp
ENST00000378910.9:c.2417C>A	ENSP00000368190.4:p.Ala806Asp
NM_004646.3:c.2417C>A , LRG_693t1:c.2417C>A	NP_004637.1:p.Ala806Asp
NM_004646.4:c.2417C>A MANE Select	NP_004637.1:p.Ala806Asp