Canonical Allele Identifier: CA2649317220
Gene: NPHS2 HGNC NCBI

Linked Data

gnomAD v4: 1-179575972-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575972T>G , CM000663.2:g.179575972T>G GRCh38
NC_000001.10:g.179545107T>G , CM000663.1:g.179545107T>G GRCh37
NC_000001.9:g.177811730T>G NCBI36
NG_007535.1:g.4978A>C , LRG_887:g.4978A>C

Transcript Alleles

HGVS Amino-acid Change
XM_005245483.2:c.-108A>C XP_005245540.1:n.-108A>C
XM_006711529.2:c.-108A>C XP_006711592.1:n.-108A>C
XM_005245483.3:c.-108A>C XP_005245540.1:n.-108A>C
XM_017002298.1:c.-108A>C XP_016857787.1:n.-108A>C
XM_017002299.1:c.-108A>C XP_016857788.1:n.-108A>C
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