Canonical Allele Identifier: CA343567372

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179557029-T-C
• MyVariant Identifiers: chr1:g.179526164T>C (hg19) ; chr1:g.179557029T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557029T>C , CM000663.2:g.179557029T>C	GRCh38
NC_000001.10:g.179526164T>C , CM000663.1:g.179526164T>C	GRCh37
NC_000001.9:g.177792787T>C	NCBI36
NG_007535.1:g.23921A>G , LRG_887:g.23921A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.736A>G MANE Select	ENSP00000356587.4:p.Lys246Glu
ENST00000367615.8:c.736A>G	ENSP00000356587.4:p.Lys246Glu
ENST00000367616.4:c.535-2498A>G	ENSP00000356588.4:n.535-2498A>G
NM_001297575.1:c.535-2498A>G	NP_001284504.1:n.535-2498A>G
NM_014625.3:c.736A>G , LRG_887t1:c.736A>G	NP_055440.1:p.Lys246Glu
XM_005245483.2:c.559A>G	XP_005245540.1:p.Lys187Glu
XM_006711529.2:c.736A>G	XP_006711592.1:p.Lys246Glu
XM_005245483.3:c.559A>G	XP_005245540.1:p.Lys187Glu
XM_017002298.1:c.461+2650A>G	XP_016857787.1:n.461+2650A>G
XM_017002299.1:c.534+2650A>G	XP_016857788.1:n.534+2650A>G
NM_001297575.2:c.535-2498A>G	NP_001284504.1:n.535-2498A>G
NM_014625.4:c.736A>G MANE Select	NP_055440.1:p.Lys246Glu