Canonical Allele Identifier: CA250212
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56488
ClinVar RCV Id: RCV000049901
dbSNP Id: rs386833927

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35841710C>T , CM000681.2:g.35841710C>T GRCh38
NC_000019.9:g.36332612C>T , CM000681.1:g.36332612C>T GRCh37
NC_000019.8:g.41024452C>T NCBI36
NG_013356.2:g.32578G>A , LRG_693:g.32578G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2815+5G>A MANE Select ENSP00000368190.4:n.2815+5G>A
ENST00000353632.6:c.2815+5G>A ENSP00000343634.5:n.2815+5G>A
ENST00000378910.9:c.2815+5G>A ENSP00000368190.4:n.2815+5G>A
NM_004646.3:c.2815+5G>A , LRG_693t1:c.2815+5G>A NP_004637.1:n.2815+5G>A
NM_004646.4:c.2815+5G>A MANE Select NP_004637.1:n.2815+5G>A