Canonical Allele Identifier: CA250107

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56430
• ClinVar RCV Id: RCV000049843 ; RCV001040489
• dbSNP Id: rs386833874
• ExAC: 19:36339251 G / A
• gnomAD v2: 19-36339251-G-A
• gnomAD v3: 19-35848349-G-A
• gnomAD v4: 19-35848349-G-A
• COSMIC: COSM5565953
• MyVariant Identifiers: chr19:g.36339251G>A (hg19) ; chr19:g.35848349G>A (hg38)
• PubMed: PMID:20172850

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848349G>A , CM000681.2:g.35848349G>A	GRCh38
NC_000019.9:g.36339251G>A , CM000681.1:g.36339251G>A	GRCh37
NC_000019.8:g.41031091G>A	NCBI36
NG_013356.2:g.25939C>T , LRG_693:g.25939C>T
NG_051206.1:g.1715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1219C>T MANE Select	ENSP00000368190.4:p.Arg407Trp
ENST00000353632.6:c.1219C>T	ENSP00000343634.5:p.Arg407Trp
ENST00000378910.9:c.1219C>T	ENSP00000368190.4:p.Arg407Trp
ENST00000592132.1:n.226C>T
NM_004646.3:c.1219C>T , LRG_693t1:c.1219C>T	NP_004637.1:p.Arg407Trp
NM_004646.4:c.1219C>T MANE Select	NP_004637.1:p.Arg407Trp