Canonical Allele Identifier: CA9390698

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 259506
• ClinVar RCV Id: RCV000248913 ; RCV000905150 ; RCV001272298 ; RCV002294149
• dbSNP Id: rs35238405
• ExAC: 19:36340467 T / C
• gnomAD v2: 19-36340467-T-C
• gnomAD v3: 19-35849565-T-C
• gnomAD v4: 19-35849565-T-C
• MyVariant Identifiers: chr19:g.36340467T>C (hg19) ; chr19:g.35849565T>C (hg38)
• PubMed: PMID:24948143

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849565T>C , CM000681.2:g.35849565T>C	GRCh38
NC_000019.9:g.36340467T>C , CM000681.1:g.36340467T>C	GRCh37
NC_000019.8:g.41032307T>C	NCBI36
NG_013356.2:g.24723A>G , LRG_693:g.24723A>G
NG_051206.1:g.2931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.697A>G MANE Select	ENSP00000368190.4:p.Thr233Ala
ENST00000353632.6:c.697A>G	ENSP00000343634.5:p.Thr233Ala
ENST00000378910.9:c.697A>G	ENSP00000368190.4:p.Thr233Ala
NM_004646.3:c.697A>G , LRG_693t1:c.697A>G	NP_004637.1:p.Thr233Ala
NM_004646.4:c.697A>G MANE Select	NP_004637.1:p.Thr233Ala