Canonical Allele Identifier: CA9390454

Gene: NPHS1

Linked Data

• dbSNP Id: rs772461570
• ExAC: 19:36339017 G / A
• gnomAD v2: 19-36339017-G-A
• gnomAD v3: 19-35848115-G-A
• gnomAD v4: 19-35848115-G-A
• COSMIC: COSM4077242
• MyVariant Identifiers: chr19:g.36339017G>A (hg19) ; chr19:g.35848115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848115G>A , CM000681.2:g.35848115G>A	GRCh38
NC_000019.9:g.36339017G>A , CM000681.1:g.36339017G>A	GRCh37
NC_000019.8:g.41030857G>A	NCBI36
NG_013356.2:g.26173C>T , LRG_693:g.26173C>T
NG_051206.1:g.1481G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378910.10:c.1366C>T MANE Select	ENSP00000368190.4:p.Arg456Trp
ENST00000353632.6:c.1366C>T	ENSP00000343634.5:p.Arg456Trp
ENST00000378910.9:c.1366C>T	ENSP00000368190.4:p.Arg456Trp
ENST00000592132.1:n.373C>T
NM_004646.3:c.1366C>T , LRG_693t1:c.1366C>T	NP_004637.1:p.Arg456Trp
NM_004646.4:c.1366C>T MANE Select	NP_004637.1:p.Arg456Trp