Canonical Allele Identifier: CA343553020

Gene: NPHS2

Linked Data

• dbSNP Id: rs1289258360
• gnomAD v2: 1-179544797-T-C
• gnomAD v4: 1-179575662-T-C
• MyVariant Identifiers: chr1:g.179544797T>C (hg19) ; chr1:g.179575662T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575662T>C , CM000663.2:g.179575662T>C	GRCh38
NC_000001.10:g.179544797T>C , CM000663.1:g.179544797T>C	GRCh37
NC_000001.9:g.177811420T>C	NCBI36
NG_007535.1:g.5288A>G , LRG_887:g.5288A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.203A>G MANE Select	ENSP00000356587.4:p.Asp68Gly
ENST00000367615.8:c.203A>G	ENSP00000356587.4:p.Asp68Gly
ENST00000367616.4:c.203A>G	ENSP00000356588.4:p.Asp68Gly
NM_001297575.1:c.203A>G	NP_001284504.1:p.Asp68Gly
NM_014625.3:c.203A>G , LRG_887t1:c.203A>G	NP_055440.1:p.Asp68Gly
XM_005245483.2:c.203A>G	XP_005245540.1:p.Asp68Gly
XM_006711529.2:c.203A>G	XP_006711592.1:p.Asp68Gly
XM_005245483.3:c.203A>G	XP_005245540.1:p.Asp68Gly
XM_017002298.1:c.203A>G	XP_016857787.1:p.Asp68Gly
XM_017002299.1:c.203A>G	XP_016857788.1:p.Asp68Gly
NM_001297575.2:c.203A>G	NP_001284504.1:p.Asp68Gly
NM_014625.4:c.203A>G MANE Select	NP_055440.1:p.Asp68Gly