Canonical Allele Identifier: CA10693376

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 1165811
• ClinVar RCV Id: RCV001513261 ; RCV001537691 ; RCV001832688
• dbSNP Id: rs1079291
• gnomAD v2: 1-179545115-G-A
• gnomAD v3: 1-179575980-G-A
• gnomAD v4: 1-179575980-G-A
• MyVariant Identifiers: chr1:g.179545115G>A (hg19) ; chr1:g.179575980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575980G>A , CM000663.2:g.179575980G>A	GRCh38
NC_000001.10:g.179545115G>A , CM000663.1:g.179545115G>A	GRCh37
NC_000001.9:g.177811738G>A	NCBI36
NG_007535.1:g.4970C>T , LRG_887:g.4970C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_017002298.1:c.-116C>T	XP_016857787.1:n.-116C>T
XM_017002299.1:c.-116C>T	XP_016857788.1:n.-116C>T