Canonical Allele Identifier: CA250131

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56445
• ClinVar RCV Id: RCV000049858 ; RCV000992445 ; RCV003407431
• dbSNP Id: rs386833887
• gnomAD v2: 19-36336627-G-T
• gnomAD v3: 19-35845725-G-T
• gnomAD v4: 19-35845725-G-T
• MyVariant Identifiers: chr19:g.36336627G>T (hg19) ; chr19:g.35845725G>T (hg38)
• PubMed: PMID:11317351 ; PMID:19812541 ; PMID:22584503

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845725G>T , CM000681.2:g.35845725G>T	GRCh38
NC_000019.9:g.36336627G>T , CM000681.1:g.36336627G>T	GRCh37
NC_000019.8:g.41028467G>T	NCBI36
NG_013356.2:g.28563C>A , LRG_693:g.28563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1701C>A MANE Select	ENSP00000368190.4:p.Cys567Ter
ENST00000353632.6:c.1701C>A	ENSP00000343634.5:p.Cys567Ter
ENST00000378910.9:c.1701C>A	ENSP00000368190.4:p.Cys567Ter
NM_004646.3:c.1701C>A , LRG_693t1:c.1701C>A	NP_004637.1:p.Cys567Ter
NM_004646.4:c.1701C>A MANE Select	NP_004637.1:p.Cys567Ter