Canonical Allele Identifier: CA9389997

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 225423
• ClinVar RCV Id: RCV000245697 ; RCV000490421 ; RCV000906876 ; RCV001127647
• dbSNP Id: rs114849139
• ExAC: 19:36330456 C / G
• gnomAD v2: 19-36330456-C-G
• gnomAD v3: 19-35839554-C-G
• gnomAD v4: 19-35839554-C-G
• MyVariant Identifiers: chr19:g.36330456C>G (hg19) ; chr19:g.35839554C>G (hg38)
• PubMed: PMID:16316524

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35839554C>G , CM000681.2:g.35839554C>G	GRCh38
NC_000019.9:g.36330456C>G , CM000681.1:g.36330456C>G	GRCh37
NC_000019.8:g.41022296C>G	NCBI36
NG_013356.2:g.34734G>C , LRG_693:g.34734G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2869G>C MANE Select	ENSP00000368190.4:p.Val957Leu
ENST00000353632.6:c.2869G>C	ENSP00000343634.5:p.Val957Leu
ENST00000378910.9:c.2869G>C	ENSP00000368190.4:p.Val957Leu
NM_004646.3:c.2869G>C , LRG_693t1:c.2869G>C	NP_004637.1:p.Val957Leu
NM_004646.4:c.2869G>C MANE Select	NP_004637.1:p.Val957Leu