Canonical Allele Identifier: CA16040673
Gene: NPHS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370679
ClinVar RCV Id: RCV000409834
dbSNP Id: rs1057516680

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575862C>T , CM000663.2:g.179575862C>T GRCh38
NC_000001.9:g.177811620C>T NCBI36
NC_000001.10:g.179544997C>T , CM000663.1:g.179544997C>T GRCh37
NG_007535.1:g.5088G>A , LRG_887:g.5088G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367615.8:c.3G>A
ENST00000367616.4:c.3G>A
NM_001297575.1:c.3G>A VV
NM_014625.3:c.3G>A , LRG_887t1:c.3G>A
XM_005245483.2:c.3G>A
XM_006711529.2:c.3G>A