Canonical Allele Identifier: CA422025907

Gene: NPHS2

Linked Data

• COSMIC: COSM1320701
• MyVariant Identifiers: chr1:g.179528829C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559694C>T , CM000663.2:g.179559694C>T	GRCh38
NC_000001.10:g.179528829C>T , CM000663.1:g.179528829C>T	GRCh37
NC_000001.9:g.177795452C>T	NCBI36
NG_007535.1:g.21256G>A , LRG_887:g.21256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.519G>A MANE Select	ENSP00000356587.4:p.Glu173=
ENST00000367615.8:c.519G>A	ENSP00000356587.4:p.Glu173=
ENST00000367616.4:c.519G>A	ENSP00000356588.4:p.Glu173=
NM_001297575.1:c.519G>A	NP_001284504.1:p.Glu173=
NM_014625.3:c.519G>A , LRG_887t1:c.519G>A	NP_055440.1:p.Glu173=
XM_005245483.2:c.342G>A	XP_005245540.1:p.Glu114=
XM_006711529.2:c.519G>A	XP_006711592.1:p.Glu173=
XM_005245483.3:c.342G>A	XP_005245540.1:p.Glu114=
XM_017002298.1:c.446G>A	XP_016857787.1:p.Arg149Lys
XM_017002299.1:c.519G>A	XP_016857788.1:p.Glu173=
NM_001297575.2:c.519G>A	NP_001284504.1:p.Glu173=
NM_014625.4:c.519G>A MANE Select	NP_055440.1:p.Glu173=