Canonical Allele Identifier: CA33654372

Gene: NPHS2

Linked Data

• dbSNP Id: rs897732088
• gnomAD v2: 1-179545093-T-G
• gnomAD v3: 1-179575958-T-G
• gnomAD v4: 1-179575958-T-G
• MyVariant Identifiers: chr1:g.179545093T>G (hg19) ; chr1:g.179575958T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575958T>G , CM000663.2:g.179575958T>G	GRCh38
NC_000001.10:g.179545093T>G , CM000663.1:g.179545093T>G	GRCh37
NC_000001.9:g.177811716T>G	NCBI36
NG_007535.1:g.4992A>C , LRG_887:g.4992A>C

Transcript Alleles

HGVS	Amino-acid Change
XM_005245483.2:c.-94A>C	XP_005245540.1:n.-94A>C
XM_006711529.2:c.-94A>C	XP_006711592.1:n.-94A>C
XM_005245483.3:c.-94A>C	XP_005245540.1:n.-94A>C
XM_017002298.1:c.-94A>C	XP_016857787.1:n.-94A>C
XM_017002299.1:c.-94A>C	XP_016857788.1:n.-94A>C