Canonical Allele Identifier: CA343552954

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 549953
• ClinVar RCV Id: RCV000664539
• dbSNP Id: rs1462028977
• gnomAD v2: 1-179544789-G-A
• gnomAD v3: 1-179575654-G-A
• gnomAD v4: 1-179575654-G-A
• MyVariant Identifiers: chr1:g.179544789G>A (hg19) ; chr1:g.179575654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575654G>A , CM000663.2:g.179575654G>A	GRCh38
NC_000001.10:g.179544789G>A , CM000663.1:g.179544789G>A	GRCh37
NC_000001.9:g.177811412G>A	NCBI36
NG_007535.1:g.5296C>T , LRG_887:g.5296C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.211C>T MANE Select	ENSP00000356587.4:p.Arg71Ter
ENST00000367615.8:c.211C>T	ENSP00000356587.4:p.Arg71Ter
ENST00000367616.4:c.211C>T	ENSP00000356588.4:p.Arg71Ter
NM_001297575.1:c.211C>T	NP_001284504.1:p.Arg71Ter
NM_014625.3:c.211C>T , LRG_887t1:c.211C>T	NP_055440.1:p.Arg71Ter
XM_005245483.2:c.211C>T	XP_005245540.1:p.Arg71Ter
XM_006711529.2:c.211C>T	XP_006711592.1:p.Arg71Ter
XM_005245483.3:c.211C>T	XP_005245540.1:p.Arg71Ter
XM_017002298.1:c.211C>T	XP_016857787.1:p.Arg71Ter
XM_017002299.1:c.211C>T	XP_016857788.1:p.Arg71Ter
NM_001297575.2:c.211C>T	NP_001284504.1:p.Arg71Ter
NM_014625.4:c.211C>T MANE Select	NP_055440.1:p.Arg71Ter