Canonical Allele Identifier: CA1267242

Gene: NPHS2

Linked Data

• dbSNP Id: rs761118549
• ExAC: 1:179533788 T / A
• gnomAD v2: 1-179533788-T-A
• gnomAD v4: 1-179564653-T-A
• MyVariant Identifiers: chr1:g.179533788T>A (hg19) ; chr1:g.179564653T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564653T>A , CM000663.2:g.179564653T>A	GRCh38
NC_000001.10:g.179533788T>A , CM000663.1:g.179533788T>A	GRCh37
NC_000001.9:g.177800411T>A	NCBI36
NG_007535.1:g.16297A>T , LRG_887:g.16297A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.378+37A>T MANE Select	ENSP00000356587.4:n.378+37A>T
ENST00000367615.8:c.378+37A>T	ENSP00000356587.4:n.378+37A>T
ENST00000367616.4:c.378+37A>T	ENSP00000356588.4:n.378+37A>T
NM_001297575.1:c.378+37A>T	NP_001284504.1:n.378+37A>T
NM_014625.3:c.378+37A>T , LRG_887t1:c.378+37A>T	NP_055440.1:n.378+37A>T
XM_005245483.2:c.275-4892A>T	XP_005245540.1:n.275-4892A>T
XM_006711529.2:c.378+37A>T	XP_006711592.1:n.378+37A>T
XM_005245483.3:c.275-4892A>T	XP_005245540.1:n.275-4892A>T
XM_017002298.1:c.378+37A>T	XP_016857787.1:n.378+37A>T
XM_017002299.1:c.378+37A>T	XP_016857788.1:n.378+37A>T
NM_001297575.2:c.378+37A>T	NP_001284504.1:n.378+37A>T
NM_014625.4:c.378+37A>T MANE Select	NP_055440.1:n.378+37A>T