Canonical Allele Identifier: CA16609437
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 397592
ClinVar RCV Id: RCV000449520
dbSNP Id: rs1060499703
MyVariant Identifiers: chr1:g.179528897C>T (hg19) chr1:g.179559762C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179559762C>T , CM000663.2:g.179559762C>T GRCh38
NC_000001.10:g.179528897C>T , CM000663.1:g.179528897C>T GRCh37
NC_000001.9:g.177795520C>T NCBI36
NG_007535.1:g.21188G>A , LRG_887:g.21188G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367615.9:c.452-1G>A MANE Select ENSP00000356587.4:n.452-1G>A
ENST00000367615.8:c.452-1G>A ENSP00000356587.4:n.452-1G>A
ENST00000367616.4:c.452-1G>A ENSP00000356588.4:n.452-1G>A
NM_001297575.1:c.452-1G>A NP_001284504.1:n.452-1G>A
NM_014625.3:c.452-1G>A , LRG_887t1:c.452-1G>A NP_055440.1:n.452-1G>A
XM_005245483.2:c.275-1G>A XP_005245540.1:n.275-1G>A
XM_006711529.2:c.452-1G>A XP_006711592.1:n.452-1G>A
XM_005245483.3:c.275-1G>A XP_005245540.1:n.275-1G>A
XM_017002298.1:c.379-1G>A XP_016857787.1:n.379-1G>A
XM_017002299.1:c.452-1G>A XP_016857788.1:n.452-1G>A
NM_001297575.2:c.452-1G>A NP_001284504.1:n.452-1G>A
NM_014625.4:c.452-1G>A MANE Select NP_055440.1:n.452-1G>A
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