Canonical Allele Identifier: CA33654373

Gene: NPHS2

Linked Data

• dbSNP Id: rs932048981
• gnomAD v2: 1-179545101-G-A
• gnomAD v3: 1-179575966-G-A
• gnomAD v4: 1-179575966-G-A
• MyVariant Identifiers: chr1:g.179545101G>A (hg19) ; chr1:g.179575966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575966G>A , CM000663.2:g.179575966G>A	GRCh38
NC_000001.10:g.179545101G>A , CM000663.1:g.179545101G>A	GRCh37
NC_000001.9:g.177811724G>A	NCBI36
NG_007535.1:g.4984C>T , LRG_887:g.4984C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_005245483.2:c.-102C>T	XP_005245540.1:n.-102C>T
XM_006711529.2:c.-102C>T	XP_006711592.1:n.-102C>T
XM_005245483.3:c.-102C>T	XP_005245540.1:n.-102C>T
XM_017002298.1:c.-102C>T	XP_016857787.1:n.-102C>T
XM_017002299.1:c.-102C>T	XP_016857788.1:n.-102C>T