Canonical Allele Identifier: CA2649317233
Gene: NPHS2 HGNC NCBI

Linked Data

gnomAD v4: 1-179575978-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575978C>A , CM000663.2:g.179575978C>A GRCh38
NC_000001.10:g.179545113C>A , CM000663.1:g.179545113C>A GRCh37
NC_000001.9:g.177811736C>A NCBI36
NG_007535.1:g.4972G>T , LRG_887:g.4972G>T

Transcript Alleles

HGVS Amino-acid Change
XM_017002298.1:c.-114G>T XP_016857787.1:n.-114G>T
XM_017002299.1:c.-114G>T XP_016857788.1:n.-114G>T
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