Canonical Allele Identifier: CA250166

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56461
• ClinVar RCV Id: RCV000049874 ; RCV001379644
• dbSNP Id: rs200253809
• ExAC: 19:36335151 G / C
• gnomAD v2: 19-36335151-G-C
• gnomAD v3: 19-35844249-G-C
• gnomAD v4: 19-35844249-G-C
• MyVariant Identifiers: chr19:g.36335151G>C (hg19) ; chr19:g.35844249G>C (hg38)
• PubMed: PMID:18614772

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35844249G>C , CM000681.2:g.35844249G>C	GRCh38
NC_000019.9:g.36335151G>C , CM000681.1:g.36335151G>C	GRCh37
NC_000019.8:g.41026991G>C	NCBI36
NG_013356.2:g.30039C>G , LRG_693:g.30039C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2072-6C>G MANE Select	ENSP00000368190.4:n.2072-6C>G
ENST00000353632.6:c.2072-6C>G	ENSP00000343634.5:n.2072-6C>G
ENST00000378910.9:c.2072-6C>G	ENSP00000368190.4:n.2072-6C>G
ENST00000585400.1:n.254-6C>G
NM_004646.3:c.2072-6C>G , LRG_693t1:c.2072-6C>G	NP_004637.1:n.2072-6C>G
NM_004646.4:c.2072-6C>G MANE Select	NP_004637.1:n.2072-6C>G