Canonical Allele Identifier: CA1267328

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 260424
• ClinVar RCV Id: RCV001517532 ; RCV001833276
• dbSNP Id: rs1079292
• ExAC: 1:179544898 T / C
• gnomAD v2: 1-179544898-T-C
• gnomAD v3: 1-179575763-T-C
• gnomAD v4: 1-179575763-T-C
• MyVariant Identifiers: chr1:g.179544898T>C (hg19) ; chr1:g.179575763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575763T>C , CM000663.2:g.179575763T>C	GRCh38
NC_000001.10:g.179544898T>C , CM000663.1:g.179544898T>C	GRCh37
NC_000001.9:g.177811521T>C	NCBI36
NG_007535.1:g.5187A>G , LRG_887:g.5187A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.102A>G MANE Select	ENSP00000356587.4:p.Gly34=
ENST00000367615.8:c.102A>G	ENSP00000356587.4:p.Gly34=
ENST00000367616.4:c.102A>G	ENSP00000356588.4:p.Gly34=
NM_001297575.1:c.102A>G	NP_001284504.1:p.Gly34=
NM_014625.3:c.102A>G , LRG_887t1:c.102A>G	NP_055440.1:p.Gly34=
XM_005245483.2:c.102A>G	XP_005245540.1:p.Gly34=
XM_006711529.2:c.102A>G	XP_006711592.1:p.Gly34=
XM_005245483.3:c.102A>G	XP_005245540.1:p.Gly34=
XM_017002298.1:c.102A>G	XP_016857787.1:p.Gly34=
XM_017002299.1:c.102A>G	XP_016857788.1:p.Gly34=
NM_001297575.2:c.102A>G	NP_001284504.1:p.Gly34=
NM_014625.4:c.102A>G MANE Select	NP_055440.1:p.Gly34=