Canonical Allele Identifier: CA343570868

Gene: NPHS2

Linked Data

• dbSNP Id: rs1412012263
• gnomAD v2: 1-179533853-A-G
• gnomAD v4: 1-179564718-A-G
• MyVariant Identifiers: chr1:g.179533853A>G (hg19) ; chr1:g.179564718A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564718A>G , CM000663.2:g.179564718A>G	GRCh38
NC_000001.10:g.179533853A>G , CM000663.1:g.179533853A>G	GRCh37
NC_000001.9:g.177800476A>G	NCBI36
NG_007535.1:g.16232T>C , LRG_887:g.16232T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.350T>C MANE Select	ENSP00000356587.4:p.Phe117Ser
ENST00000367615.8:c.350T>C	ENSP00000356587.4:p.Phe117Ser
ENST00000367616.4:c.350T>C	ENSP00000356588.4:p.Phe117Ser
NM_001297575.1:c.350T>C	NP_001284504.1:p.Phe117Ser
NM_014625.3:c.350T>C , LRG_887t1:c.350T>C	NP_055440.1:p.Phe117Ser
XM_005245483.2:c.275-4957T>C	XP_005245540.1:n.275-4957T>C
XM_006711529.2:c.350T>C	XP_006711592.1:p.Phe117Ser
XM_005245483.3:c.275-4957T>C	XP_005245540.1:n.275-4957T>C
XM_017002298.1:c.350T>C	XP_016857787.1:p.Phe117Ser
XM_017002299.1:c.350T>C	XP_016857788.1:p.Phe117Ser
NM_001297575.2:c.350T>C	NP_001284504.1:p.Phe117Ser
NM_014625.4:c.350T>C MANE Select	NP_055440.1:p.Phe117Ser