Canonical Allele Identifier: CA343568841

Gene: NPHS2

Linked Data

• MyVariant Identifiers: chr1:g.179528843G>A (hg19) ; chr1:g.179559708G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559708G>A , CM000663.2:g.179559708G>A	GRCh38
NC_000001.10:g.179528843G>A , CM000663.1:g.179528843G>A	GRCh37
NC_000001.9:g.177795466G>A	NCBI36
NG_007535.1:g.21242C>T , LRG_887:g.21242C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.505C>T MANE Select	ENSP00000356587.4:p.Leu169Phe
ENST00000367615.8:c.505C>T	ENSP00000356587.4:p.Leu169Phe
ENST00000367616.4:c.505C>T	ENSP00000356588.4:p.Leu169Phe
NM_001297575.1:c.505C>T	NP_001284504.1:p.Leu169Phe
NM_014625.3:c.505C>T , LRG_887t1:c.505C>T	NP_055440.1:p.Leu169Phe
XM_005245483.2:c.328C>T	XP_005245540.1:p.Leu110Phe
XM_006711529.2:c.505C>T	XP_006711592.1:p.Leu169Phe
XM_005245483.3:c.328C>T	XP_005245540.1:p.Leu110Phe
XM_017002298.1:c.432C>T	XP_016857787.1:p.Val144=
XM_017002299.1:c.505C>T	XP_016857788.1:p.Leu169Phe
NM_001297575.2:c.505C>T	NP_001284504.1:p.Leu169Phe
NM_014625.4:c.505C>T MANE Select	NP_055440.1:p.Leu169Phe