Canonical Allele Identifier: CA343567669

Gene: NPHS2

Linked Data

• dbSNP Id: rs1673959611
• gnomAD v4: 1-179557092-G-A
• MyVariant Identifiers: chr1:g.179526227G>A (hg19) ; chr1:g.179557092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557092G>A , CM000663.2:g.179557092G>A	GRCh38
NC_000001.10:g.179526227G>A , CM000663.1:g.179526227G>A	GRCh37
NC_000001.9:g.177792850G>A	NCBI36
NG_007535.1:g.23858C>T , LRG_887:g.23858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.673C>T MANE Select	ENSP00000356587.4:p.Leu225Phe
ENST00000367615.8:c.673C>T	ENSP00000356587.4:p.Leu225Phe
ENST00000367616.4:c.535-2561C>T	ENSP00000356588.4:n.535-2561C>T
NM_001297575.1:c.535-2561C>T	NP_001284504.1:n.535-2561C>T
NM_014625.3:c.673C>T , LRG_887t1:c.673C>T	NP_055440.1:p.Leu225Phe
XM_005245483.2:c.496C>T	XP_005245540.1:p.Leu166Phe
XM_006711529.2:c.673C>T	XP_006711592.1:p.Leu225Phe
XM_005245483.3:c.496C>T	XP_005245540.1:p.Leu166Phe
XM_017002298.1:c.461+2587C>T	XP_016857787.1:n.461+2587C>T
XM_017002299.1:c.534+2587C>T	XP_016857788.1:n.534+2587C>T
NM_001297575.2:c.535-2561C>T	NP_001284504.1:n.535-2561C>T
NM_014625.4:c.673C>T MANE Select	NP_055440.1:p.Leu225Phe