Canonical Allele Identifier: CA1009659985

Gene: NPHS2

Linked Data

• dbSNP Id: rs1674060538
• gnomAD v3: 1-179559636-A-G
• gnomAD v4: 1-179559636-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559636A>G , CM000663.2:g.179559636A>G	GRCh38
NC_000001.10:g.179528771A>G , CM000663.1:g.179528771A>G	GRCh37
NC_000001.9:g.177795394A>G	NCBI36
NG_007535.1:g.21314T>C , LRG_887:g.21314T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.534+43T>C MANE Select	ENSP00000356587.4:n.534+43T>C
ENST00000367615.8:c.534+43T>C	ENSP00000356587.4:n.534+43T>C
ENST00000367616.4:c.534+43T>C	ENSP00000356588.4:n.534+43T>C
NM_001297575.1:c.534+43T>C	NP_001284504.1:n.534+43T>C
NM_014625.3:c.534+43T>C , LRG_887t1:c.534+43T>C	NP_055440.1:n.534+43T>C
XM_005245483.2:c.357+43T>C	XP_005245540.1:n.357+43T>C
XM_006711529.2:c.534+43T>C	XP_006711592.1:n.534+43T>C
XM_005245483.3:c.357+43T>C	XP_005245540.1:n.357+43T>C
XM_017002298.1:c.461+43T>C	XP_016857787.1:n.461+43T>C
XM_017002299.1:c.534+43T>C	XP_016857788.1:n.534+43T>C
NM_001297575.2:c.534+43T>C	NP_001284504.1:n.534+43T>C
NM_014625.4:c.534+43T>C MANE Select	NP_055440.1:n.534+43T>C