Canonical Allele Identifier: CA1267139

Gene: NPHS2

Linked Data

• dbSNP Id: rs768426098
• ExAC: 1:179526118 A / G
• gnomAD v2: 1-179526118-A-G
• gnomAD v3: 1-179556983-A-G
• gnomAD v4: 1-179556983-A-G
• MyVariant Identifiers: chr1:g.179526118A>G (hg19) ; chr1:g.179556983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556983A>G , CM000663.2:g.179556983A>G	GRCh38
NC_000001.10:g.179526118A>G , CM000663.1:g.179526118A>G	GRCh37
NC_000001.9:g.177792741A>G	NCBI36
NG_007535.1:g.23967T>C , LRG_887:g.23967T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.738+44T>C MANE Select	ENSP00000356587.4:n.738+44T>C
ENST00000367615.8:c.738+44T>C	ENSP00000356587.4:n.738+44T>C
ENST00000367616.4:c.535-2452T>C	ENSP00000356588.4:n.535-2452T>C
NM_001297575.1:c.535-2452T>C	NP_001284504.1:n.535-2452T>C
NM_014625.3:c.738+44T>C , LRG_887t1:c.738+44T>C	NP_055440.1:n.738+44T>C
XM_005245483.2:c.561+44T>C	XP_005245540.1:n.561+44T>C
XM_006711529.2:c.738+44T>C	XP_006711592.1:n.738+44T>C
XM_005245483.3:c.561+44T>C	XP_005245540.1:n.561+44T>C
XM_017002298.1:c.461+2696T>C	XP_016857787.1:n.461+2696T>C
XM_017002299.1:c.534+2696T>C	XP_016857788.1:n.534+2696T>C
NM_001297575.2:c.535-2452T>C	NP_001284504.1:n.535-2452T>C
NM_014625.4:c.738+44T>C MANE Select	NP_055440.1:n.738+44T>C