Canonical Allele Identifier: CA343570812

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 2609253
• ClinVar RCV Id: RCV003375774
• MyVariant Identifiers: chr1:g.179533839A>G (hg19) ; chr1:g.179564704A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564704A>G , CM000663.2:g.179564704A>G	GRCh38
NC_000001.10:g.179533839A>G , CM000663.1:g.179533839A>G	GRCh37
NC_000001.9:g.177800462A>G	NCBI36
NG_007535.1:g.16246T>C , LRG_887:g.16246T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.364T>C MANE Select	ENSP00000356587.4:p.Trp122Arg
ENST00000367615.8:c.364T>C	ENSP00000356587.4:p.Trp122Arg
ENST00000367616.4:c.364T>C	ENSP00000356588.4:p.Trp122Arg
NM_001297575.1:c.364T>C	NP_001284504.1:p.Trp122Arg
NM_014625.3:c.364T>C , LRG_887t1:c.364T>C	NP_055440.1:p.Trp122Arg
XM_005245483.2:c.275-4943T>C	XP_005245540.1:n.275-4943T>C
XM_006711529.2:c.364T>C	XP_006711592.1:p.Trp122Arg
XM_005245483.3:c.275-4943T>C	XP_005245540.1:n.275-4943T>C
XM_017002298.1:c.364T>C	XP_016857787.1:p.Trp122Arg
XM_017002299.1:c.364T>C	XP_016857788.1:p.Trp122Arg
NM_001297575.2:c.364T>C	NP_001284504.1:p.Trp122Arg
NM_014625.4:c.364T>C MANE Select	NP_055440.1:p.Trp122Arg