Canonical Allele Identifier: CA343567349

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 553546
• ClinVar RCV Id: RCV000669020 ; RCV001855512
• dbSNP Id: rs1212702104
• gnomAD v4: 1-179557025-A-G
• MyVariant Identifiers: chr1:g.179526160A>G (hg19) ; chr1:g.179557025A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557025A>G , CM000663.2:g.179557025A>G	GRCh38
NC_000001.10:g.179526160A>G , CM000663.1:g.179526160A>G	GRCh37
NC_000001.9:g.177792783A>G	NCBI36
NG_007535.1:g.23925T>C , LRG_887:g.23925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+2T>C MANE Select	ENSP00000356587.4:n.738+2T>C
ENST00000367615.8:c.738+2T>C	ENSP00000356587.4:n.738+2T>C
ENST00000367616.4:c.535-2494T>C	ENSP00000356588.4:n.535-2494T>C
NM_001297575.1:c.535-2494T>C	NP_001284504.1:n.535-2494T>C
NM_014625.3:c.738+2T>C , LRG_887t1:c.738+2T>C	NP_055440.1:n.738+2T>C
XM_005245483.2:c.561+2T>C	XP_005245540.1:n.561+2T>C
XM_006711529.2:c.738+2T>C	XP_006711592.1:n.738+2T>C
XM_005245483.3:c.561+2T>C	XP_005245540.1:n.561+2T>C
XM_017002298.1:c.461+2654T>C	XP_016857787.1:n.461+2654T>C
XM_017002299.1:c.534+2654T>C	XP_016857788.1:n.534+2654T>C
NM_001297575.2:c.535-2494T>C	NP_001284504.1:n.535-2494T>C
NM_014625.4:c.738+2T>C MANE Select	NP_055440.1:n.738+2T>C