Canonical Allele Identifier: CA352418

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 222760
• ClinVar RCV Id: RCV000208400 ; RCV000923782 ; RCV001272301
• dbSNP Id: rs539716201
• ExAC: 19:36341346 A / G
• gnomAD v2: 19-36341346-A-G
• gnomAD v3: 19-35850444-A-G
• gnomAD v4: 19-35850444-A-G
• MyVariant Identifiers: chr19:g.36341346A>G (hg19) ; chr19:g.35850444A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850444A>G , CM000681.2:g.35850444A>G	GRCh38
NC_000019.9:g.36341346A>G , CM000681.1:g.36341346A>G	GRCh37
NC_000019.8:g.41033186A>G	NCBI36
NG_013356.2:g.23844T>C , LRG_693:g.23844T>C
NG_051206.1:g.3810A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.528T>C MANE Select	ENSP00000368190.4:p.Ser176=
ENST00000353632.6:c.528T>C	ENSP00000343634.5:p.Ser176=
ENST00000378910.9:c.528T>C	ENSP00000368190.4:p.Ser176=
NM_004646.3:c.528T>C , LRG_693t1:c.528T>C	NP_004637.1:p.Ser176=
NM_004646.4:c.528T>C MANE Select	NP_004637.1:p.Ser176=