Canonical Allele Identifier: CA346571

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 180465
• ClinVar RCV Id: RCV000157401 ; RCV002515049 ; RCV002516361 ; RCV002498780
• dbSNP Id: rs730880175
• ExAC: 19:36330452 C / T
• gnomAD v2: 19-36330452-C-T
• gnomAD v3: 19-35839550-C-T
• gnomAD v4: 19-35839550-C-T
• MyVariant Identifiers: chr19:g.36330452C>T (hg19) ; chr19:g.35839550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35839550C>T , CM000681.2:g.35839550C>T	GRCh38
NC_000019.9:g.36330452C>T , CM000681.1:g.36330452C>T	GRCh37
NC_000019.8:g.41022292C>T	NCBI36
NG_013356.2:g.34738G>A , LRG_693:g.34738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2873G>A MANE Select	ENSP00000368190.4:p.Gly958Glu
ENST00000353632.6:c.2873G>A	ENSP00000343634.5:p.Gly958Glu
ENST00000378910.9:c.2873G>A	ENSP00000368190.4:p.Gly958Glu
NM_004646.3:c.2873G>A , LRG_693t1:c.2873G>A	NP_004637.1:p.Gly958Glu
NM_004646.4:c.2873G>A MANE Select	NP_004637.1:p.Gly958Glu