Canonical Allele Identifier: CA250158

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56457
• ClinVar RCV Id: RCV000049870 ; RCV002514254
• dbSNP Id: rs386833899
• gnomAD v2: 19-36335338-G-A
• gnomAD v3: 19-35844436-G-A
• gnomAD v4: 19-35844436-G-A
• MyVariant Identifiers: chr19:g.36335338G>A (hg19) ; chr19:g.35844436G>A (hg38)
• PubMed: PMID:9915943

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35844436G>A , CM000681.2:g.35844436G>A	GRCh38
NC_000019.9:g.36335338G>A , CM000681.1:g.36335338G>A	GRCh37
NC_000019.8:g.41027178G>A	NCBI36
NG_013356.2:g.29852C>T , LRG_693:g.29852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1954C>T MANE Select	ENSP00000368190.4:p.Gln652Ter
ENST00000353632.6:c.1954C>T	ENSP00000343634.5:p.Gln652Ter
ENST00000378910.9:c.1954C>T	ENSP00000368190.4:p.Gln652Ter
ENST00000585400.1:n.136C>T
NM_004646.3:c.1954C>T , LRG_693t1:c.1954C>T	NP_004637.1:p.Gln652Ter
NM_004646.4:c.1954C>T MANE Select	NP_004637.1:p.Gln652Ter