Canonical Allele Identifier: CA9389695
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1265144
ClinVar RCV Id: RCV001677917
dbSNP Id: rs73928317

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826681G>C , CM000681.2:g.35826681G>C GRCh38
NC_000019.9:g.36317583G>C , CM000681.1:g.36317583G>C GRCh37
NC_000019.8:g.41009423G>C NCBI36
NG_013356.2:g.47607C>G , LRG_693:g.47607C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-36C>G MANE Select ENSP00000368190.4:n.3595-36C>G
ENST00000353632.6:c.3475-36C>G ENSP00000343634.5:n.3475-36C>G
ENST00000378910.9:c.3595-36C>G ENSP00000368190.4:n.3595-36C>G
NM_004646.3:c.3595-36C>G , LRG_693t1:c.3595-36C>G NP_004637.1:n.3595-36C>G
NM_004646.4:c.3595-36C>G MANE Select NP_004637.1:n.3595-36C>G