Canonical Allele Identifier: CA9390652

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 496273
• ClinVar RCV Id: RCV000587459 ; RCV003558448
• dbSNP Id: rs749341977
• ExAC: 19:36340176 G / A
• gnomAD v2: 19-36340176-G-A
• gnomAD v3: 19-35849274-G-A
• gnomAD v4: 19-35849274-G-A
• MyVariant Identifiers: chr19:g.36340176G>A (hg19) ; chr19:g.35849274G>A (hg38)
• PubMed: PMID:19423745 ; PMID:20507940

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849274G>A , CM000681.2:g.35849274G>A	GRCh38
NC_000019.9:g.36340176G>A , CM000681.1:g.36340176G>A	GRCh37
NC_000019.8:g.41032016G>A	NCBI36
NG_013356.2:g.25014C>T , LRG_693:g.25014C>T
NG_051206.1:g.2640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.802C>T MANE Select	ENSP00000368190.4:p.Arg268Ter
ENST00000353632.6:c.802C>T	ENSP00000343634.5:p.Arg268Ter
ENST00000378910.9:c.802C>T	ENSP00000368190.4:p.Arg268Ter
NM_004646.3:c.802C>T , LRG_693t1:c.802C>T	NP_004637.1:p.Arg268Ter
NM_004646.4:c.802C>T MANE Select	NP_004637.1:p.Arg268Ter