Canonical Allele Identifier: CA33654371

Gene: NPHS2

Linked Data

• dbSNP Id: rs571045342
• gnomAD v2: 1-179545092-G-T
• gnomAD v3: 1-179575957-G-T
• gnomAD v4: 1-179575957-G-T
• MyVariant Identifiers: chr1:g.179545092G>T (hg19) ; chr1:g.179575957G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575957G>T , CM000663.2:g.179575957G>T	GRCh38
NC_000001.10:g.179545092G>T , CM000663.1:g.179545092G>T	GRCh37
NC_000001.9:g.177811715G>T	NCBI36
NG_007535.1:g.4993C>A , LRG_887:g.4993C>A

Transcript Alleles

HGVS	Amino-acid Change
XM_005245483.2:c.-93C>A	XP_005245540.1:n.-93C>A
XM_006711529.2:c.-93C>A	XP_006711592.1:n.-93C>A
XM_005245483.3:c.-93C>A	XP_005245540.1:n.-93C>A
XM_017002298.1:c.-93C>A	XP_016857787.1:n.-93C>A
XM_017002299.1:c.-93C>A	XP_016857788.1:n.-93C>A