Canonical Allele Identifier: CA343568910

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179559723-T-C
• MyVariant Identifiers: chr1:g.179528858T>C (hg19) ; chr1:g.179559723T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559723T>C , CM000663.2:g.179559723T>C	GRCh38
NC_000001.10:g.179528858T>C , CM000663.1:g.179528858T>C	GRCh37
NC_000001.9:g.177795481T>C	NCBI36
NG_007535.1:g.21227A>G , LRG_887:g.21227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.490A>G MANE Select	ENSP00000356587.4:p.Lys164Glu
ENST00000367615.8:c.490A>G	ENSP00000356587.4:p.Lys164Glu
ENST00000367616.4:c.490A>G	ENSP00000356588.4:p.Lys164Glu
NM_001297575.1:c.490A>G	NP_001284504.1:p.Lys164Glu
NM_014625.3:c.490A>G , LRG_887t1:c.490A>G	NP_055440.1:p.Lys164Glu
XM_005245483.2:c.313A>G	XP_005245540.1:p.Lys105Glu
XM_006711529.2:c.490A>G	XP_006711592.1:p.Lys164Glu
XM_005245483.3:c.313A>G	XP_005245540.1:p.Lys105Glu
XM_017002298.1:c.417A>G	XP_016857787.1:p.Thr139=
XM_017002299.1:c.490A>G	XP_016857788.1:p.Lys164Glu
NM_001297575.2:c.490A>G	NP_001284504.1:p.Lys164Glu
NM_014625.4:c.490A>G MANE Select	NP_055440.1:p.Lys164Glu