Canonical Allele Identifier: CA344732

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56431
• ClinVar RCV Id: RCV000049844 ; RCV000681697 ; RCV003415817
• dbSNP Id: rs386833873
• ExAC: 19:36342510 CAG / C
• gnomAD v2: 19-36342510-CAG-C
• gnomAD v3: 19-35851608-CAG-C
• gnomAD v4: 19-35851608-CAG-C
• MyVariant Identifiers: chr19:g.36342511_36342512del (hg19) ; chr19:g.35851609_35851610del (hg38)
• PubMed: PMID:9660941 ; PMID:9915943

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851609_35851610del , CM000681.2:g.35851609_35851610del	GRCh38
NC_000019.9:g.36342511_36342512del , CM000681.1:g.36342511_36342512del	GRCh37
NC_000019.8:g.41034351_41034352del	NCBI36
NG_013356.2:g.22678_22679del , LRG_693:g.22678_22679del
NG_051206.1:g.4975_4976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.121_122del MANE Select	ENSP00000368190.4:p.Leu41AspfsTer?
ENST00000353632.6:c.121_122del	ENSP00000343634.5:p.Leu41AspfsTer?
ENST00000378910.9:c.121_122del	ENSP00000368190.4:p.Leu41AspfsTer?
NM_004646.3:c.121_122del , LRG_693t1:c.121_122del	NP_004637.1:p.Leu41AspfsTer?
NM_004646.4:c.121_122del MANE Select	NP_004637.1:p.Leu41AspfsTer?