Canonical Allele Identifier: CA9390387

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 447874
• ClinVar RCV Id: RCV001277293 ; RCV001127721 ; RCV002060249 ; RCV003942697
• dbSNP Id: rs149598144
• ExAC: 19:36336918 G / T
• gnomAD v2: 19-36336918-G-T
• gnomAD v3: 19-35846016-G-T
• gnomAD v4: 19-35846016-G-T
• MyVariant Identifiers: chr19:g.36336918G>T (hg19) ; chr19:g.35846016G>T (hg38)
• PubMed: PMID:24371179

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35846016G>T , CM000681.2:g.35846016G>T	GRCh38
NC_000019.9:g.36336918G>T , CM000681.1:g.36336918G>T	GRCh37
NC_000019.8:g.41028758G>T	NCBI36
NG_013356.2:g.28272C>A , LRG_693:g.28272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1619C>A MANE Select	ENSP00000368190.4:p.Ala540Glu
ENST00000353632.6:c.1619C>A	ENSP00000343634.5:p.Ala540Glu
ENST00000378910.9:c.1619C>A	ENSP00000368190.4:p.Ala540Glu
NM_004646.3:c.1619C>A , LRG_693t1:c.1619C>A	NP_004637.1:p.Ala540Glu
NM_004646.4:c.1619C>A MANE Select	NP_004637.1:p.Ala540Glu