Canonical Allele Identifier: CA9390896

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 328882
• ClinVar RCV Id: RCV000306765 ; RCV000904238 ; RCV001272305 ; RCV002294274
• dbSNP Id: rs114385015
• ExAC: 19:36342482 G / A
• gnomAD v2: 19-36342482-G-A
• gnomAD v3: 19-35851580-G-A
• gnomAD v4: 19-35851580-G-A
• MyVariant Identifiers: chr19:g.36342482G>A (hg19) ; chr19:g.35851580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851580G>A , CM000681.2:g.35851580G>A	GRCh38
NC_000019.9:g.36342482G>A , CM000681.1:g.36342482G>A	GRCh37
NC_000019.8:g.41034322G>A	NCBI36
NG_013356.2:g.22708C>T , LRG_693:g.22708C>T
NG_051206.1:g.4946G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.151C>T MANE Select	ENSP00000368190.4:p.Leu51=
ENST00000353632.6:c.151C>T	ENSP00000343634.5:p.Leu51=
ENST00000378910.9:c.151C>T	ENSP00000368190.4:p.Leu51=
NM_004646.3:c.151C>T , LRG_693t1:c.151C>T	NP_004637.1:p.Leu51=
NM_004646.4:c.151C>T MANE Select	NP_004637.1:p.Leu51=