Canonical Allele Identifier: CA1267140

Gene: NPHS2

Linked Data

• dbSNP Id: rs766516719
• ExAC: 1:179526148 G / A
• gnomAD v2: 1-179526148-G-A
• gnomAD v3: 1-179557013-G-A
• gnomAD v4: 1-179557013-G-A
• MyVariant Identifiers: chr1:g.179526148G>A (hg19) ; chr1:g.179557013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557013G>A , CM000663.2:g.179557013G>A	GRCh38
NC_000001.10:g.179526148G>A , CM000663.1:g.179526148G>A	GRCh37
NC_000001.9:g.177792771G>A	NCBI36
NG_007535.1:g.23937C>T , LRG_887:g.23937C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.738+14C>T MANE Select	ENSP00000356587.4:n.738+14C>T
ENST00000367615.8:c.738+14C>T	ENSP00000356587.4:n.738+14C>T
ENST00000367616.4:c.535-2482C>T	ENSP00000356588.4:n.535-2482C>T
NM_001297575.1:c.535-2482C>T	NP_001284504.1:n.535-2482C>T
NM_014625.3:c.738+14C>T , LRG_887t1:c.738+14C>T	NP_055440.1:n.738+14C>T
XM_005245483.2:c.561+14C>T	XP_005245540.1:n.561+14C>T
XM_006711529.2:c.738+14C>T	XP_006711592.1:n.738+14C>T
XM_005245483.3:c.561+14C>T	XP_005245540.1:n.561+14C>T
XM_017002298.1:c.461+2666C>T	XP_016857787.1:n.461+2666C>T
XM_017002299.1:c.534+2666C>T	XP_016857788.1:n.534+2666C>T
NM_001297575.2:c.535-2482C>T	NP_001284504.1:n.535-2482C>T
NM_014625.4:c.738+14C>T MANE Select	NP_055440.1:n.738+14C>T