Canonical Allele Identifier: CA343569974
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 807639
ClinVar RCV Id: RCV000995819
dbSNP Id: rs1572282458

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179561361C>T , CM000663.2:g.179561361C>T GRCh38
NC_000001.10:g.179530496C>T , CM000663.1:g.179530496C>T GRCh37
NC_000001.9:g.177797119C>T NCBI36
NG_007535.1:g.19589G>A , LRG_887:g.19589G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.379G>A MANE Select ENSP00000356587.4:p.Val127Ile
ENST00000367615.8:c.379G>A ENSP00000356587.4:p.Val127Ile
ENST00000367616.4:c.379G>A ENSP00000356588.4:p.Val127Ile
NM_001297575.1:c.379G>A NP_001284504.1:p.Val127Ile
NM_014625.3:c.379G>A , LRG_887t1:c.379G>A NP_055440.1:p.Val127Ile
XM_005245483.2:c.275-1600G>A XP_005245540.1:n.275-1600G>A
XM_006711529.2:c.379G>A XP_006711592.1:p.Val127Ile
XM_005245483.3:c.275-1600G>A XP_005245540.1:n.275-1600G>A
XM_017002298.1:c.379-1600G>A XP_016857787.1:n.379-1600G>A
XM_017002299.1:c.379G>A XP_016857788.1:p.Val127Ile
NM_001297575.2:c.379G>A NP_001284504.1:p.Val127Ile
NM_014625.4:c.379G>A MANE Select NP_055440.1:p.Val127Ile