Canonical Allele Identifier: CA9389689
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1140057
ClinVar RCV Id: RCV001477009
dbSNP Id: rs772120895

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826649A>T , CM000681.2:g.35826649A>T GRCh38
NC_000019.9:g.36317551A>T , CM000681.1:g.36317551A>T GRCh37
NC_000019.8:g.41009391A>T NCBI36
NG_013356.2:g.47639T>A , LRG_693:g.47639T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-4T>A MANE Select ENSP00000368190.4:n.3595-4T>A
ENST00000353632.6:c.3475-4T>A ENSP00000343634.5:n.3475-4T>A
ENST00000378910.9:c.3595-4T>A ENSP00000368190.4:n.3595-4T>A
NM_004646.3:c.3595-4T>A , LRG_693t1:c.3595-4T>A NP_004637.1:n.3595-4T>A
NM_004646.4:c.3595-4T>A MANE Select NP_004637.1:n.3595-4T>A