Canonical Allele Identifier: CA891826836

Gene: NPHS2

Linked Data

• dbSNP Id: rs1428319691
• gnomAD v3: 1-179575983-G-A
• gnomAD v4: 1-179575983-G-A
• MyVariant Identifiers: chr1:g.179545118G>A (hg19) ; chr1:g.179575983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575983G>A , CM000663.2:g.179575983G>A	GRCh38
NC_000001.10:g.179545118G>A , CM000663.1:g.179545118G>A	GRCh37
NC_000001.9:g.177811741G>A	NCBI36
NG_007535.1:g.4967C>T , LRG_887:g.4967C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_017002299.1:c.-119C>T	XP_016857788.1:n.-119C>T