Canonical Allele Identifier: CA2573958548

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179557004-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557004G>T , CM000663.2:g.179557004G>T	GRCh38
NC_000001.10:g.179526139G>T , CM000663.1:g.179526139G>T	GRCh37
NC_000001.9:g.177792762G>T	NCBI36
NG_007535.1:g.23946C>A , LRG_887:g.23946C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+23C>A MANE Select	ENSP00000356587.4:n.738+23C>A
ENST00000367615.8:c.738+23C>A	ENSP00000356587.4:n.738+23C>A
ENST00000367616.4:c.535-2473C>A	ENSP00000356588.4:n.535-2473C>A
NM_001297575.1:c.535-2473C>A	NP_001284504.1:n.535-2473C>A
NM_014625.3:c.738+23C>A , LRG_887t1:c.738+23C>A	NP_055440.1:n.738+23C>A
XM_005245483.2:c.561+23C>A	XP_005245540.1:n.561+23C>A
XM_006711529.2:c.738+23C>A	XP_006711592.1:n.738+23C>A
XM_005245483.3:c.561+23C>A	XP_005245540.1:n.561+23C>A
XM_017002298.1:c.461+2675C>A	XP_016857787.1:n.461+2675C>A
XM_017002299.1:c.534+2675C>A	XP_016857788.1:n.534+2675C>A
NM_001297575.2:c.535-2473C>A	NP_001284504.1:n.535-2473C>A
NM_014625.4:c.738+23C>A MANE Select	NP_055440.1:n.738+23C>A