Canonical Allele Identifier: CA9390580

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 1587760
• ClinVar RCV Id: RCV002103527 ; RCV002479901
• dbSNP Id: rs373353156
• ExAC: 19:36339861 C / G
• gnomAD v2: 19-36339861-C-G
• gnomAD v3: 19-35848959-C-G
• gnomAD v4: 19-35848959-C-G
• MyVariant Identifiers: chr19:g.36339861C>G (hg19) ; chr19:g.35848959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848959C>G , CM000681.2:g.35848959C>G	GRCh38
NC_000019.9:g.36339861C>G , CM000681.1:g.36339861C>G	GRCh37
NC_000019.8:g.41031701C>G	NCBI36
NG_013356.2:g.25329G>C , LRG_693:g.25329G>C
NG_051206.1:g.2325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1012+17G>C MANE Select	ENSP00000368190.4:n.1012+17G>C
ENST00000353632.6:c.1012+17G>C	ENSP00000343634.5:n.1012+17G>C
ENST00000378910.9:c.1012+17G>C	ENSP00000368190.4:n.1012+17G>C
ENST00000592132.1:n.19+17G>C
NM_004646.3:c.1012+17G>C , LRG_693t1:c.1012+17G>C	NP_004637.1:n.1012+17G>C
NM_004646.4:c.1012+17G>C MANE Select	NP_004637.1:n.1012+17G>C