Canonical Allele Identifier: CA421996068

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179575652-T-C
• MyVariant Identifiers: chr1:g.179544787T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575652T>C , CM000663.2:g.179575652T>C	GRCh38
NC_000001.10:g.179544787T>C , CM000663.1:g.179544787T>C	GRCh37
NC_000001.9:g.177811410T>C	NCBI36
NG_007535.1:g.5298A>G , LRG_887:g.5298A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.213A>G MANE Select	ENSP00000356587.4:p.Arg71=
ENST00000367615.8:c.213A>G	ENSP00000356587.4:p.Arg71=
ENST00000367616.4:c.213A>G	ENSP00000356588.4:p.Arg71=
NM_001297575.1:c.213A>G	NP_001284504.1:p.Arg71=
NM_014625.3:c.213A>G , LRG_887t1:c.213A>G	NP_055440.1:p.Arg71=
XM_005245483.2:c.213A>G	XP_005245540.1:p.Arg71=
XM_006711529.2:c.213A>G	XP_006711592.1:p.Arg71=
XM_005245483.3:c.213A>G	XP_005245540.1:p.Arg71=
XM_017002298.1:c.213A>G	XP_016857787.1:p.Arg71=
XM_017002299.1:c.213A>G	XP_016857788.1:p.Arg71=
NM_001297575.2:c.213A>G	NP_001284504.1:p.Arg71=
NM_014625.4:c.213A>G MANE Select	NP_055440.1:p.Arg71=