Canonical Allele Identifier: CA9389963

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 328859
• ClinVar RCV Id: RCV000387149 ; RCV000977399 ; RCV001277283 ; RCV003910262
• dbSNP Id: rs201263480
• ExAC: 19:36330287 A / G
• gnomAD v2: 19-36330287-A-G
• gnomAD v3: 19-35839385-A-G
• gnomAD v4: 19-35839385-A-G
• MyVariant Identifiers: chr19:g.36330287A>G (hg19) ; chr19:g.35839385A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35839385A>G , CM000681.2:g.35839385A>G	GRCh38
NC_000019.9:g.36330287A>G , CM000681.1:g.36330287A>G	GRCh37
NC_000019.8:g.41022127A>G	NCBI36
NG_013356.2:g.34903T>C , LRG_693:g.34903T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2961T>C MANE Select	ENSP00000368190.4:p.Tyr987=
ENST00000353632.6:c.2961T>C	ENSP00000343634.5:p.Tyr987=
ENST00000378910.9:c.2961T>C	ENSP00000368190.4:p.Tyr987=
NM_004646.3:c.2961T>C , LRG_693t1:c.2961T>C	NP_004637.1:p.Tyr987=
NM_004646.4:c.2961T>C MANE Select	NP_004637.1:p.Tyr987=