Canonical Allele Identifier: CA10581518
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 236184
ClinVar RCV Id: RCV000225056
dbSNP Id: rs878853211
MyVariant Identifiers: chr1:g.179530366T>A (hg19) chr1:g.179561231T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179561231T>A , CM000663.2:g.179561231T>A GRCh38
NC_000001.10:g.179530366T>A , CM000663.1:g.179530366T>A GRCh37
NC_000001.9:g.177796989T>A NCBI36
NG_007535.1:g.19719A>T , LRG_887:g.19719A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367615.9:c.451+58A>T MANE Select ENSP00000356587.4:n.451+58A>T
ENST00000367615.8:c.451+58A>T ENSP00000356587.4:n.451+58A>T
ENST00000367616.4:c.451+58A>T ENSP00000356588.4:n.451+58A>T
NM_001297575.1:c.451+58A>T NP_001284504.1:n.451+58A>T
NM_014625.3:c.451+58A>T , LRG_887t1:c.451+58A>T NP_055440.1:n.451+58A>T
XM_005245483.2:c.275-1470A>T XP_005245540.1:n.275-1470A>T
XM_006711529.2:c.451+58A>T XP_006711592.1:n.451+58A>T
XM_005245483.3:c.275-1470A>T XP_005245540.1:n.275-1470A>T
XM_017002298.1:c.379-1470A>T XP_016857787.1:n.379-1470A>T
XM_017002299.1:c.451+58A>T XP_016857788.1:n.451+58A>T
NM_001297575.2:c.451+58A>T NP_001284504.1:n.451+58A>T
NM_014625.4:c.451+58A>T MANE Select NP_055440.1:n.451+58A>T
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