Canonical Allele Identifier: CA250191

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56476
• ClinVar RCV Id: RCV000049889 ; RCV001853054 ; RCV003415818
• dbSNP Id: rs386833915
• ExAC: 19:36333296 G / A
• gnomAD v2: 19-36333296-G-A
• gnomAD v3: 19-35842394-G-A
• gnomAD v4: 19-35842394-G-A
• MyVariant Identifiers: chr19:g.36333296G>A (hg19) ; chr19:g.35842394G>A (hg38)
• PubMed: PMID:9915943 ; PMID:11726550 ; PMID:19406966 ; PMID:22584503

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842394G>A , CM000681.2:g.35842394G>A	GRCh38
NC_000019.9:g.36333296G>A , CM000681.1:g.36333296G>A	GRCh37
NC_000019.8:g.41025136G>A	NCBI36
NG_013356.2:g.31894C>T , LRG_693:g.31894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2491C>T MANE Select	ENSP00000368190.4:p.Arg831Cys
ENST00000353632.6:c.2491C>T	ENSP00000343634.5:p.Arg831Cys
ENST00000378910.9:c.2491C>T	ENSP00000368190.4:p.Arg831Cys
NM_004646.3:c.2491C>T , LRG_693t1:c.2491C>T	NP_004637.1:p.Arg831Cys
NM_004646.4:c.2491C>T MANE Select	NP_004637.1:p.Arg831Cys