Canonical Allele Identifier: CA891819506

Gene: NPHS2

Linked Data

• dbSNP Id: rs1456864422
• gnomAD v3: 1-179561500-C-G
• gnomAD v4: 1-179561500-C-G
• MyVariant Identifiers: chr1:g.179530635C>G (hg19) ; chr1:g.179561500C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561500C>G , CM000663.2:g.179561500C>G	GRCh38
NC_000001.10:g.179530635C>G , CM000663.1:g.179530635C>G	GRCh37
NC_000001.9:g.177797258C>G	NCBI36
NG_007535.1:g.19450G>C , LRG_887:g.19450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.379-139G>C MANE Select	ENSP00000356587.4:n.379-139G>C
ENST00000367615.8:c.379-139G>C	ENSP00000356587.4:n.379-139G>C
ENST00000367616.4:c.379-139G>C	ENSP00000356588.4:n.379-139G>C
NM_001297575.1:c.379-139G>C	NP_001284504.1:n.379-139G>C
NM_014625.3:c.379-139G>C , LRG_887t1:c.379-139G>C	NP_055440.1:n.379-139G>C
XM_005245483.2:c.275-1739G>C	XP_005245540.1:n.275-1739G>C
XM_006711529.2:c.379-139G>C	XP_006711592.1:n.379-139G>C
XM_005245483.3:c.275-1739G>C	XP_005245540.1:n.275-1739G>C
XM_017002298.1:c.379-1739G>C	XP_016857787.1:n.379-1739G>C
XM_017002299.1:c.379-139G>C	XP_016857788.1:n.379-139G>C
NM_001297575.2:c.379-139G>C	NP_001284504.1:n.379-139G>C
NM_014625.4:c.379-139G>C MANE Select	NP_055440.1:n.379-139G>C