Canonical Allele Identifier: CA527197952

Gene: NPHS2

Linked Data

• dbSNP Id: rs1428246010
• gnomAD v2: 1-179525714-T-C
• MyVariant Identifiers: chr1:g.179525714T>C (hg19) ; chr1:g.179556579T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556579T>C , CM000663.2:g.179556579T>C	GRCh38
NC_000001.10:g.179525714T>C , CM000663.1:g.179525714T>C	GRCh37
NC_000001.9:g.177792337T>C	NCBI36
NG_007535.1:g.24371A>G , LRG_887:g.24371A>G
NG_033075.1:g.195860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+448A>G MANE Select	ENSP00000356587.4:n.738+448A>G
ENST00000367615.8:c.738+448A>G	ENSP00000356587.4:n.738+448A>G
ENST00000367616.4:c.535-2048A>G	ENSP00000356588.4:n.535-2048A>G
NM_001297575.1:c.535-2048A>G	NP_001284504.1:n.535-2048A>G
NM_014625.3:c.738+448A>G , LRG_887t1:c.738+448A>G	NP_055440.1:n.738+448A>G
XM_005245483.2:c.561+448A>G	XP_005245540.1:n.561+448A>G
XM_006711529.2:c.738+448A>G	XP_006711592.1:n.738+448A>G
XM_005245483.3:c.561+448A>G	XP_005245540.1:n.561+448A>G
XM_017002298.1:c.461+3100A>G	XP_016857787.1:n.461+3100A>G
XM_017002299.1:c.534+3100A>G	XP_016857788.1:n.534+3100A>G
NM_001297575.2:c.535-2048A>G	NP_001284504.1:n.535-2048A>G
NM_014625.4:c.738+448A>G MANE Select	NP_055440.1:n.738+448A>G