Canonical Allele Identifier: CA9389760

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 259498
• ClinVar RCV Id: RCV000251305 ; RCV000669627 ; RCV000888863 ; RCV002294145
• dbSNP Id: rs143092783
• ExAC: 19:36322018 G / T
• gnomAD v2: 19-36322018-G-T
• gnomAD v3: 19-35831116-G-T
• gnomAD v4: 19-35831116-G-T
• MyVariant Identifiers: chr19:g.36322018G>T (hg19) ; chr19:g.35831116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35831116G>T , CM000681.2:g.35831116G>T	GRCh38
NC_000019.9:g.36322018G>T , CM000681.1:g.36322018G>T	GRCh37
NC_000019.8:g.41013858G>T	NCBI36
NG_013356.2:g.43172C>A , LRG_693:g.43172C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378910.10:c.3418C>A MANE Select	ENSP00000368190.4:p.Arg1140Ser
ENST00000353632.6:c.3298C>A	ENSP00000343634.5:p.Arg1100Ser
ENST00000378910.9:c.3418C>A	ENSP00000368190.4:p.Arg1140Ser
NM_004646.3:c.3418C>A , LRG_693t1:c.3418C>A	NP_004637.1:p.Arg1140Ser
NM_004646.4:c.3418C>A MANE Select	NP_004637.1:p.Arg1140Ser