Canonical Allele Identifier: CA891826831
Gene: NPHS2 HGNC NCBI

Linked Data

dbSNP Id: rs1467064458
gnomAD v3: 1-179575970-C-G
gnomAD v4: 1-179575970-C-G
MyVariant Identifiers: chr1:g.179545105C>G (hg19) chr1:g.179575970C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575970C>G , CM000663.2:g.179575970C>G GRCh38
NC_000001.10:g.179545105C>G , CM000663.1:g.179545105C>G GRCh37
NC_000001.9:g.177811728C>G NCBI36
NG_007535.1:g.4980G>C , LRG_887:g.4980G>C

Transcript Alleles

HGVS Amino-acid Change
XM_005245483.2:c.-106G>C XP_005245540.1:n.-106G>C
XM_006711529.2:c.-106G>C XP_006711592.1:n.-106G>C
XM_005245483.3:c.-106G>C XP_005245540.1:n.-106G>C
XM_017002298.1:c.-106G>C XP_016857787.1:n.-106G>C
XM_017002299.1:c.-106G>C XP_016857788.1:n.-106G>C
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