Canonical Allele Identifier: CA343552818

Gene: NPHS2

Linked Data

• dbSNP Id: rs1186309031
• gnomAD v3: 1-179575636-C-A
• gnomAD v4: 1-179575636-C-A
• MyVariant Identifiers: chr1:g.179544771C>A (hg19) ; chr1:g.179575636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575636C>A , CM000663.2:g.179575636C>A	GRCh38
NC_000001.10:g.179544771C>A , CM000663.1:g.179544771C>A	GRCh37
NC_000001.9:g.177811394C>A	NCBI36
NG_007535.1:g.5314G>T , LRG_887:g.5314G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.229G>T MANE Select	ENSP00000356587.4:p.Gly77Cys
ENST00000367615.8:c.229G>T	ENSP00000356587.4:p.Gly77Cys
ENST00000367616.4:c.229G>T	ENSP00000356588.4:p.Gly77Cys
NM_001297575.1:c.229G>T	NP_001284504.1:p.Gly77Cys
NM_014625.3:c.229G>T , LRG_887t1:c.229G>T	NP_055440.1:p.Gly77Cys
XM_005245483.2:c.229G>T	XP_005245540.1:p.Gly77Cys
XM_006711529.2:c.229G>T	XP_006711592.1:p.Gly77Cys
XM_005245483.3:c.229G>T	XP_005245540.1:p.Gly77Cys
XM_017002298.1:c.229G>T	XP_016857787.1:p.Gly77Cys
XM_017002299.1:c.229G>T	XP_016857788.1:p.Gly77Cys
NM_001297575.2:c.229G>T	NP_001284504.1:p.Gly77Cys
NM_014625.4:c.229G>T MANE Select	NP_055440.1:p.Gly77Cys