Canonical Allele Identifier: CA16040668
Gene: NPHS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370340
ClinVar RCV Id: RCV000411024
dbSNP Id: rs1057516414
COSMIC: COSM276378

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179557080G>A , CM000663.2:g.179557080G>A GRCh38
NC_000001.10:g.179526215G>A , CM000663.1:g.179526215G>A GRCh37
NC_000001.9:g.177792838G>A NCBI36
NG_007535.1:g.23870C>T , LRG_887:g.23870C>T

Transcript Alleles

HGVS Amino-acid change
NM_001297575.1:c.535-2549C>T VV NP_001284504.1:p.=
NM_014625.3:c.685C>T , LRG_887t1:c.685C>T NP_055440.1:p.Arg229Ter
XM_005245483.2:c.508C>T XP_005245540.1:p.Arg170Ter
XM_006711529.2:c.685C>T XP_006711592.1:p.Arg229Ter
XM_005245483.3:c.508C>T XP_005245540.1:p.Arg170Ter
XM_017002298.1:c.461+2599C>T XP_016857787.1:p.=
XM_017002299.1:c.534+2599C>T XP_016857788.1:p.=
ENST00000367615.8:c.685C>T ENSP00000356587.4:p.Arg229Ter
ENST00000367616.4:c.535-2549C>T ENSP00000356588.4:p.=