Canonical Allele Identifier: CA250253

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56512
• ClinVar RCV Id: RCV000049925
• dbSNP Id: rs386833950
• MyVariant Identifiers: chr19:g.36341858C>G (hg19) ; chr19:g.35850956C>G (hg38)
• PubMed: PMID:9915943

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850956C>G , CM000681.2:g.35850956C>G	GRCh38
NC_000019.9:g.36341858C>G , CM000681.1:g.36341858C>G	GRCh37
NC_000019.8:g.41033698C>G	NCBI36
NG_013356.2:g.23332G>C , LRG_693:g.23332G>C
NG_051206.1:g.4322C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.526+5G>C MANE Select	ENSP00000368190.4:n.526+5G>C
ENST00000353632.6:c.526+5G>C	ENSP00000343634.5:n.526+5G>C
ENST00000378910.9:c.526+5G>C	ENSP00000368190.4:n.526+5G>C
NM_004646.3:c.526+5G>C , LRG_693t1:c.526+5G>C	NP_004637.1:n.526+5G>C
NM_004646.4:c.526+5G>C MANE Select	NP_004637.1:n.526+5G>C