Canonical Allele Identifier: CA527198747

Gene: NPHS2

Linked Data

• dbSNP Id: rs1265620882
• gnomAD v2: 1-179529014-C-G
• gnomAD v3: 1-179559879-C-G
• gnomAD v4: 1-179559879-C-G
• MyVariant Identifiers: chr1:g.179529014C>G (hg19) ; chr1:g.179559879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559879C>G , CM000663.2:g.179559879C>G	GRCh38
NC_000001.10:g.179529014C>G , CM000663.1:g.179529014C>G	GRCh37
NC_000001.9:g.177795637C>G	NCBI36
NG_007535.1:g.21071G>C , LRG_887:g.21071G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.452-118G>C MANE Select	ENSP00000356587.4:n.452-118G>C
ENST00000367615.8:c.452-118G>C	ENSP00000356587.4:n.452-118G>C
ENST00000367616.4:c.452-118G>C	ENSP00000356588.4:n.452-118G>C
NM_001297575.1:c.452-118G>C	NP_001284504.1:n.452-118G>C
NM_014625.3:c.452-118G>C , LRG_887t1:c.452-118G>C	NP_055440.1:n.452-118G>C
XM_005245483.2:c.275-118G>C	XP_005245540.1:n.275-118G>C
XM_006711529.2:c.452-118G>C	XP_006711592.1:n.452-118G>C
XM_005245483.3:c.275-118G>C	XP_005245540.1:n.275-118G>C
XM_017002298.1:c.379-118G>C	XP_016857787.1:n.379-118G>C
XM_017002299.1:c.452-118G>C	XP_016857788.1:n.452-118G>C
NM_001297575.2:c.452-118G>C	NP_001284504.1:n.452-118G>C
NM_014625.4:c.452-118G>C MANE Select	NP_055440.1:n.452-118G>C