Canonical Allele Identifier: CA343569843

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 2143285
• ClinVar RCV Id: RCV003051432
• dbSNP Id: rs1177096771
• MyVariant Identifiers: chr1:g.179530477C>G (hg19) ; chr1:g.179561342C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561342C>G , CM000663.2:g.179561342C>G	GRCh38
NC_000001.10:g.179530477C>G , CM000663.1:g.179530477C>G	GRCh37
NC_000001.9:g.177797100C>G	NCBI36
NG_007535.1:g.19608G>C , LRG_887:g.19608G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.398G>C MANE Select	ENSP00000356587.4:p.Arg133Thr
ENST00000367615.8:c.398G>C	ENSP00000356587.4:p.Arg133Thr
ENST00000367616.4:c.398G>C	ENSP00000356588.4:p.Arg133Thr
NM_001297575.1:c.398G>C	NP_001284504.1:p.Arg133Thr
NM_014625.3:c.398G>C , LRG_887t1:c.398G>C	NP_055440.1:p.Arg133Thr
XM_005245483.2:c.275-1581G>C	XP_005245540.1:n.275-1581G>C
XM_006711529.2:c.398G>C	XP_006711592.1:p.Arg133Thr
XM_005245483.3:c.275-1581G>C	XP_005245540.1:n.275-1581G>C
XM_017002298.1:c.379-1581G>C	XP_016857787.1:n.379-1581G>C
XM_017002299.1:c.398G>C	XP_016857788.1:p.Arg133Thr
NM_001297575.2:c.398G>C	NP_001284504.1:p.Arg133Thr
NM_014625.4:c.398G>C MANE Select	NP_055440.1:p.Arg133Thr