Canonical Allele Identifier: CA421996925

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 1138827
• ClinVar RCV Id: RCV001475315
• dbSNP Id: rs1053139144
• gnomAD v3: 1-179575727-C-G
• gnomAD v4: 1-179575727-C-G
• MyVariant Identifiers: chr1:g.179544862C>G (hg19) ; chr1:g.179575727C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575727C>G , CM000663.2:g.179575727C>G	GRCh38
NC_000001.10:g.179544862C>G , CM000663.1:g.179544862C>G	GRCh37
NC_000001.9:g.177811485C>G	NCBI36
NG_007535.1:g.5223G>C , LRG_887:g.5223G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.138G>C MANE Select	ENSP00000356587.4:p.Ser46=
ENST00000367615.8:c.138G>C	ENSP00000356587.4:p.Ser46=
ENST00000367616.4:c.138G>C	ENSP00000356588.4:p.Ser46=
NM_001297575.1:c.138G>C	NP_001284504.1:p.Ser46=
NM_014625.3:c.138G>C , LRG_887t1:c.138G>C	NP_055440.1:p.Ser46=
XM_005245483.2:c.138G>C	XP_005245540.1:p.Ser46=
XM_006711529.2:c.138G>C	XP_006711592.1:p.Ser46=
XM_005245483.3:c.138G>C	XP_005245540.1:p.Ser46=
XM_017002298.1:c.138G>C	XP_016857787.1:p.Ser46=
XM_017002299.1:c.138G>C	XP_016857788.1:p.Ser46=
NM_001297575.2:c.138G>C	NP_001284504.1:p.Ser46=
NM_014625.4:c.138G>C MANE Select	NP_055440.1:p.Ser46=