Canonical Allele Identifier: CA343569730

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179561327-C-A
• MyVariant Identifiers: chr1:g.179530462C>A (hg19) ; chr1:g.179561327C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561327C>A , CM000663.2:g.179561327C>A	GRCh38
NC_000001.10:g.179530462C>A , CM000663.1:g.179530462C>A	GRCh37
NC_000001.9:g.177797085C>A	NCBI36
NG_007535.1:g.19623G>T , LRG_887:g.19623G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.413G>T MANE Select	ENSP00000356587.4:p.Arg138Leu
ENST00000367615.8:c.413G>T	ENSP00000356587.4:p.Arg138Leu
ENST00000367616.4:c.413G>T	ENSP00000356588.4:p.Arg138Leu
NM_001297575.1:c.413G>T	NP_001284504.1:p.Arg138Leu
NM_014625.3:c.413G>T , LRG_887t1:c.413G>T	NP_055440.1:p.Arg138Leu
XM_005245483.2:c.275-1566G>T	XP_005245540.1:n.275-1566G>T
XM_006711529.2:c.413G>T	XP_006711592.1:p.Arg138Leu
XM_005245483.3:c.275-1566G>T	XP_005245540.1:n.275-1566G>T
XM_017002298.1:c.379-1566G>T	XP_016857787.1:n.379-1566G>T
XM_017002299.1:c.413G>T	XP_016857788.1:p.Arg138Leu
NM_001297575.2:c.413G>T	NP_001284504.1:p.Arg138Leu
NM_014625.4:c.413G>T MANE Select	NP_055440.1:p.Arg138Leu