Canonical Allele Identifier: CA9390295

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 328865
• ClinVar RCV Id: RCV000341078 ; RCV000889130 ; RCV001277287 ; RCV002294272
• dbSNP Id: rs114728208
• ExAC: 19:36336274 T / C
• gnomAD v2: 19-36336274-T-C
• gnomAD v3: 19-35845372-T-C
• gnomAD v4: 19-35845372-T-C
• MyVariant Identifiers: chr19:g.36336274T>C (hg19) ; chr19:g.35845372T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845372T>C , CM000681.2:g.35845372T>C	GRCh38
NC_000019.9:g.36336274T>C , CM000681.1:g.36336274T>C	GRCh37
NC_000019.8:g.41028114T>C	NCBI36
NG_013356.2:g.28916A>G , LRG_693:g.28916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1926A>G MANE Select	ENSP00000368190.4:p.Val642=
ENST00000353632.6:c.1926A>G	ENSP00000343634.5:p.Val642=
ENST00000378910.9:c.1926A>G	ENSP00000368190.4:p.Val642=
ENST00000585400.1:n.112+27A>G
NM_004646.3:c.1926A>G , LRG_693t1:c.1926A>G	NP_004637.1:p.Val642=
NM_004646.4:c.1926A>G MANE Select	NP_004637.1:p.Val642=