Canonical Allele Identifier: CA346563

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 180462
• ClinVar RCV Id: RCV000157398 ; RCV000671934 ; RCV000910963 ; RCV001127722 ; RCV002294057 ; RCV003917541
• dbSNP Id: rs368913905
• ExAC: 19:36336927 G / A
• gnomAD v2: 19-36336927-G-A
• gnomAD v3: 19-35846025-G-A
• gnomAD v4: 19-35846025-G-A
• MyVariant Identifiers: chr19:g.36336927G>A (hg19) ; chr19:g.35846025G>A (hg38)
• PubMed: PMID:19812541

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35846025G>A , CM000681.2:g.35846025G>A	GRCh38
NC_000019.9:g.36336927G>A , CM000681.1:g.36336927G>A	GRCh37
NC_000019.8:g.41028767G>A	NCBI36
NG_013356.2:g.28263C>T , LRG_693:g.28263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1610C>T MANE Select	ENSP00000368190.4:p.Thr537Met
ENST00000353632.6:c.1610C>T	ENSP00000343634.5:p.Thr537Met
ENST00000378910.9:c.1610C>T	ENSP00000368190.4:p.Thr537Met
NM_004646.3:c.1610C>T , LRG_693t1:c.1610C>T	NP_004637.1:p.Thr537Met
NM_004646.4:c.1610C>T MANE Select	NP_004637.1:p.Thr537Met