Canonical Allele Identifier: CA10586716

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 260428
• ClinVar RCV Id: RCV000251960 ; RCV002058250 ; RCV003343732
• dbSNP Id: rs886038606
• gnomAD v4: 1-179559757-A-G
• MyVariant Identifiers: chr1:g.179528892A>G (hg19) ; chr1:g.179559757A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559757A>G , CM000663.2:g.179559757A>G	GRCh38
NC_000001.10:g.179528892A>G , CM000663.1:g.179528892A>G	GRCh37
NC_000001.9:g.177795515A>G	NCBI36
NG_007535.1:g.21193T>C , LRG_887:g.21193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.456T>C MANE Select	ENSP00000356587.4:p.Leu152=
ENST00000367615.8:c.456T>C	ENSP00000356587.4:p.Leu152=
ENST00000367616.4:c.456T>C	ENSP00000356588.4:p.Leu152=
NM_001297575.1:c.456T>C	NP_001284504.1:p.Leu152=
NM_014625.3:c.456T>C , LRG_887t1:c.456T>C	NP_055440.1:p.Leu152=
XM_005245483.2:c.279T>C	XP_005245540.1:p.Leu93=
XM_006711529.2:c.456T>C	XP_006711592.1:p.Leu152=
XM_005245483.3:c.279T>C	XP_005245540.1:p.Leu93=
XM_017002298.1:c.383T>C	XP_016857787.1:p.Phe128Ser
XM_017002299.1:c.456T>C	XP_016857788.1:p.Leu152=
NM_001297575.2:c.456T>C	NP_001284504.1:p.Leu152=
NM_014625.4:c.456T>C MANE Select	NP_055440.1:p.Leu152=