Canonical Allele Identifier: CA343553635

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 3024013
• ClinVar RCV Id: RCV003881108
• dbSNP Id: rs759402903
• gnomAD v2: 1-179544870-C-A
• gnomAD v4: 1-179575735-C-A
• MyVariant Identifiers: chr1:g.179544870C>A (hg19) ; chr1:g.179575735C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575735C>A , CM000663.2:g.179575735C>A	GRCh38
NC_000001.10:g.179544870C>A , CM000663.1:g.179544870C>A	GRCh37
NC_000001.9:g.177811493C>A	NCBI36
NG_007535.1:g.5215G>T , LRG_887:g.5215G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.130G>T MANE Select	ENSP00000356587.4:p.Glu44Ter
ENST00000367615.8:c.130G>T	ENSP00000356587.4:p.Glu44Ter
ENST00000367616.4:c.130G>T	ENSP00000356588.4:p.Glu44Ter
NM_001297575.1:c.130G>T	NP_001284504.1:p.Glu44Ter
NM_014625.3:c.130G>T , LRG_887t1:c.130G>T	NP_055440.1:p.Glu44Ter
XM_005245483.2:c.130G>T	XP_005245540.1:p.Glu44Ter
XM_006711529.2:c.130G>T	XP_006711592.1:p.Glu44Ter
XM_005245483.3:c.130G>T	XP_005245540.1:p.Glu44Ter
XM_017002298.1:c.130G>T	XP_016857787.1:p.Glu44Ter
XM_017002299.1:c.130G>T	XP_016857788.1:p.Glu44Ter
NM_001297575.2:c.130G>T	NP_001284504.1:p.Glu44Ter
NM_014625.4:c.130G>T MANE Select	NP_055440.1:p.Glu44Ter