Canonical Allele Identifier: CA250270

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56521
• ClinVar RCV Id: RCV000049934 ; RCV003556134
• dbSNP Id: rs386833959
• ExAC: 19:36340242 C / A
• gnomAD v2: 19-36340242-C-A
• gnomAD v4: 19-35849340-C-A
• MyVariant Identifiers: chr19:g.36340242C>A (hg19) ; chr19:g.35849340C>A (hg38)
• PubMed: PMID:15780077 ; PMID:19321760

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849340C>A , CM000681.2:g.35849340C>A	GRCh38
NC_000019.9:g.36340242C>A , CM000681.1:g.36340242C>A	GRCh37
NC_000019.8:g.41032082C>A	NCBI36
NG_013356.2:g.24948G>T , LRG_693:g.24948G>T
NG_051206.1:g.2706C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.736G>T MANE Select	ENSP00000368190.4:p.Glu246Ter
ENST00000353632.6:c.736G>T	ENSP00000343634.5:p.Glu246Ter
ENST00000378910.9:c.736G>T	ENSP00000368190.4:p.Glu246Ter
NM_004646.3:c.736G>T , LRG_693t1:c.736G>T	NP_004637.1:p.Glu246Ter
NM_004646.4:c.736G>T MANE Select	NP_004637.1:p.Glu246Ter