Canonical Allele Identifier: CA250218

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56493
• ClinVar RCV Id: RCV000049906 ; RCV002294009 ; RCV002513693
• dbSNP Id: rs386833932
• gnomAD v2: 19-36342248-C-T
• gnomAD v3: 19-35851346-C-T
• gnomAD v4: 19-35851346-C-T
• COSMIC: COSM5389483
• MyVariant Identifiers: chr19:g.36342248C>T (hg19) ; chr19:g.35851346C>T (hg38)
• PubMed: PMID:15780077

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851346C>T , CM000681.2:g.35851346C>T	GRCh38
NC_000019.9:g.36342248C>T , CM000681.1:g.36342248C>T	GRCh37
NC_000019.8:g.41034088C>T	NCBI36
NG_013356.2:g.22942G>A , LRG_693:g.22942G>A
NG_051206.1:g.4712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.313G>A MANE Select	ENSP00000368190.4:p.Asp105Asn
ENST00000353632.6:c.313G>A	ENSP00000343634.5:p.Asp105Asn
ENST00000378910.9:c.313G>A	ENSP00000368190.4:p.Asp105Asn
NM_004646.3:c.313G>A , LRG_693t1:c.313G>A	NP_004637.1:p.Asp105Asn
NM_004646.4:c.313G>A MANE Select	NP_004637.1:p.Asp105Asn