Canonical Allele Identifier: CA250096
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56425
ClinVar RCV Id: RCV000049838
dbSNP Id: rs386833868

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848681G>C , CM000681.2:g.35848681G>C GRCh38
NC_000019.9:g.36339583G>C , CM000681.1:g.36339583G>C GRCh37
NC_000019.8:g.41031423G>C NCBI36
NG_013356.2:g.25607C>G , LRG_693:g.25607C>G
NG_051206.1:g.2047G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1126C>G MANE Select ENSP00000368190.4:p.Leu376Val
ENST00000353632.6:c.1126C>G ENSP00000343634.5:p.Leu376Val
ENST00000378910.9:c.1126C>G ENSP00000368190.4:p.Leu376Val
ENST00000592132.1:n.133C>G
NM_004646.3:c.1126C>G , LRG_693t1:c.1126C>G NP_004637.1:p.Leu376Val
NM_004646.4:c.1126C>G MANE Select NP_004637.1:p.Leu376Val