Canonical Allele Identifier: CA9390510
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs372069596
ExAC: 19:36339287 C / A
gnomAD v2: 19-36339287-C-A
gnomAD v4: 19-35848385-C-A
MyVariant Identifiers: chr19:g.36339287C>A (hg19) chr19:g.35848385C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848385C>A , CM000681.2:g.35848385C>A GRCh38
NC_000019.9:g.36339287C>A , CM000681.1:g.36339287C>A GRCh37
NC_000019.8:g.41031127C>A NCBI36
NG_013356.2:g.25903G>T , LRG_693:g.25903G>T
NG_051206.1:g.1751C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1183G>T MANE Select ENSP00000368190.4:p.Gly395Cys
ENST00000353632.6:c.1183G>T ENSP00000343634.5:p.Gly395Cys
ENST00000378910.9:c.1183G>T ENSP00000368190.4:p.Gly395Cys
ENST00000592132.1:n.190G>T
NM_004646.3:c.1183G>T , LRG_693t1:c.1183G>T NP_004637.1:p.Gly395Cys
NM_004646.4:c.1183G>T MANE Select NP_004637.1:p.Gly395Cys
Search 100 bp 5'
Search 100 bp 3'