Canonical Allele Identifier: CA9390068
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs778951863

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842124C>G , CM000681.2:g.35842124C>G GRCh38
NC_000019.9:g.36333026C>G , CM000681.1:g.36333026C>G GRCh37
NC_000019.8:g.41024866C>G NCBI36
NG_013356.2:g.32164G>C , LRG_693:g.32164G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2663G>C MANE Select ENSP00000368190.4:p.Arg888Thr
ENST00000353632.6:c.2663G>C ENSP00000343634.5:p.Arg888Thr
ENST00000378910.9:c.2663G>C ENSP00000368190.4:p.Arg888Thr
NM_004646.3:c.2663G>C , LRG_693t1:c.2663G>C NP_004637.1:p.Arg888Thr
NM_004646.4:c.2663G>C MANE Select NP_004637.1:p.Arg888Thr