Canonical Allele Identifier: CA343570815

Gene: NPHS2

Linked Data

• dbSNP Id: rs1674270984
• gnomAD v3: 1-179564705-G-C
• gnomAD v4: 1-179564705-G-C
• MyVariant Identifiers: chr1:g.179533840G>C (hg19) ; chr1:g.179564705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564705G>C , CM000663.2:g.179564705G>C	GRCh38
NC_000001.10:g.179533840G>C , CM000663.1:g.179533840G>C	GRCh37
NC_000001.9:g.177800463G>C	NCBI36
NG_007535.1:g.16245C>G , LRG_887:g.16245C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.363C>G MANE Select	ENSP00000356587.4:p.Ile121Met
ENST00000367615.8:c.363C>G	ENSP00000356587.4:p.Ile121Met
ENST00000367616.4:c.363C>G	ENSP00000356588.4:p.Ile121Met
NM_001297575.1:c.363C>G	NP_001284504.1:p.Ile121Met
NM_014625.3:c.363C>G , LRG_887t1:c.363C>G	NP_055440.1:p.Ile121Met
XM_005245483.2:c.275-4944C>G	XP_005245540.1:n.275-4944C>G
XM_006711529.2:c.363C>G	XP_006711592.1:p.Ile121Met
XM_005245483.3:c.275-4944C>G	XP_005245540.1:n.275-4944C>G
XM_017002298.1:c.363C>G	XP_016857787.1:p.Ile121Met
XM_017002299.1:c.363C>G	XP_016857788.1:p.Ile121Met
NM_001297575.2:c.363C>G	NP_001284504.1:p.Ile121Met
NM_014625.4:c.363C>G MANE Select	NP_055440.1:p.Ile121Met