Canonical Allele Identifier: CA343568987

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179559737-A-G
• MyVariant Identifiers: chr1:g.179528872A>G (hg19) ; chr1:g.179559737A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559737A>G , CM000663.2:g.179559737A>G	GRCh38
NC_000001.10:g.179528872A>G , CM000663.1:g.179528872A>G	GRCh37
NC_000001.9:g.177795495A>G	NCBI36
NG_007535.1:g.21213T>C , LRG_887:g.21213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.476T>C MANE Select	ENSP00000356587.4:p.Leu159Pro
ENST00000367615.8:c.476T>C	ENSP00000356587.4:p.Leu159Pro
ENST00000367616.4:c.476T>C	ENSP00000356588.4:p.Leu159Pro
NM_001297575.1:c.476T>C	NP_001284504.1:p.Leu159Pro
NM_014625.3:c.476T>C , LRG_887t1:c.476T>C	NP_055440.1:p.Leu159Pro
XM_005245483.2:c.299T>C	XP_005245540.1:p.Leu100Pro
XM_006711529.2:c.476T>C	XP_006711592.1:p.Leu159Pro
XM_005245483.3:c.299T>C	XP_005245540.1:p.Leu100Pro
XM_017002298.1:c.403T>C	XP_016857787.1:p.Trp135Arg
XM_017002299.1:c.476T>C	XP_016857788.1:p.Leu159Pro
NM_001297575.2:c.476T>C	NP_001284504.1:p.Leu159Pro
NM_014625.4:c.476T>C MANE Select	NP_055440.1:p.Leu159Pro