Canonical Allele Identifier: CA405390993

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 496271
• ClinVar RCV Id: RCV000586590 ; RCV000712428
• dbSNP Id: rs762392183
• gnomAD v2: 19-36333024-A-C
• gnomAD v4: 19-35842122-A-C
• MyVariant Identifiers: chr19:g.36333024A>C (hg19) ; chr19:g.35842122A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842122A>C , CM000681.2:g.35842122A>C	GRCh38
NC_000019.9:g.36333024A>C , CM000681.1:g.36333024A>C	GRCh37
NC_000019.8:g.41024864A>C	NCBI36
NG_013356.2:g.32166T>G , LRG_693:g.32166T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2663+2T>G MANE Select	ENSP00000368190.4:n.2663+2T>G
ENST00000353632.6:c.2663+2T>G	ENSP00000343634.5:n.2663+2T>G
ENST00000378910.9:c.2663+2T>G	ENSP00000368190.4:n.2663+2T>G
NM_004646.3:c.2663+2T>G , LRG_693t1:c.2663+2T>G	NP_004637.1:n.2663+2T>G
NM_004646.4:c.2663+2T>G MANE Select	NP_004637.1:n.2663+2T>G