Canonical Allele Identifier: CA9390566

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 2885636
• ClinVar RCV Id: RCV003717354
• dbSNP Id: rs377331907
• ExAC: 19:36339713 G / A
• gnomAD v2: 19-36339713-G-A
• gnomAD v3: 19-35848811-G-A
• gnomAD v4: 19-35848811-G-A
• MyVariant Identifiers: chr19:g.36339713G>A (hg19) ; chr19:g.35848811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848811G>A , CM000681.2:g.35848811G>A	GRCh38
NC_000019.9:g.36339713G>A , CM000681.1:g.36339713G>A	GRCh37
NC_000019.8:g.41031553G>A	NCBI36
NG_013356.2:g.25477C>T , LRG_693:g.25477C>T
NG_051206.1:g.2177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1013-17C>T MANE Select	ENSP00000368190.4:n.1013-17C>T
ENST00000353632.6:c.1013-17C>T	ENSP00000343634.5:n.1013-17C>T
ENST00000378910.9:c.1013-17C>T	ENSP00000368190.4:n.1013-17C>T
ENST00000592132.1:n.20-17C>T
NM_004646.3:c.1013-17C>T , LRG_693t1:c.1013-17C>T	NP_004637.1:n.1013-17C>T
NM_004646.4:c.1013-17C>T MANE Select	NP_004637.1:n.1013-17C>T