Canonical Allele Identifier: CA405392150
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1004356
dbSNP Id: rs1599841693

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842262T>G , CM000681.2:g.35842262T>G GRCh38
NC_000019.9:g.36333164T>G , CM000681.1:g.36333164T>G GRCh37
NC_000019.8:g.41025004T>G NCBI36
NG_013356.2:g.32026A>C , LRG_693:g.32026A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2525A>C MANE Select ENSP00000368190.4:p.His842Pro
ENST00000353632.6:c.2525A>C ENSP00000343634.5:p.His842Pro
ENST00000378910.9:c.2525A>C ENSP00000368190.4:p.His842Pro
NM_004646.3:c.2525A>C , LRG_693t1:c.2525A>C NP_004637.1:p.His842Pro
NM_004646.4:c.2525A>C MANE Select NP_004637.1:p.His842Pro