Canonical Allele Identifier: CA9390547

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 328872
• ClinVar RCV Id: RCV000387172 ; RCV000889132 ; RCV001272291 ; RCV002294273
• dbSNP Id: rs116459838
• ExAC: 19:36339599 A / G
• gnomAD v2: 19-36339599-A-G
• gnomAD v3: 19-35848697-A-G
• gnomAD v4: 19-35848697-A-G
• MyVariant Identifiers: chr19:g.36339599A>G (hg19) ; chr19:g.35848697A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848697A>G , CM000681.2:g.35848697A>G	GRCh38
NC_000019.9:g.36339599A>G , CM000681.1:g.36339599A>G	GRCh37
NC_000019.8:g.41031439A>G	NCBI36
NG_013356.2:g.25591T>C , LRG_693:g.25591T>C
NG_051206.1:g.2063A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1110T>C MANE Select	ENSP00000368190.4:p.Val370=
ENST00000353632.6:c.1110T>C	ENSP00000343634.5:p.Val370=
ENST00000378910.9:c.1110T>C	ENSP00000368190.4:p.Val370=
ENST00000592132.1:n.117T>C
NM_004646.3:c.1110T>C , LRG_693t1:c.1110T>C	NP_004637.1:p.Val370=
NM_004646.4:c.1110T>C MANE Select	NP_004637.1:p.Val370=