Canonical Allele Identifier: CA250315
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 189074
dbSNP Id: rs150855173

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35831092G>A , CM000681.2:g.35831092G>A GRCh38
NC_000019.9:g.36321994G>A , CM000681.1:g.36321994G>A GRCh37
NC_000019.8:g.41013834G>A NCBI36
NG_013356.2:g.43196C>T , LRG_693:g.43196C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3442C>T MANE Select ENSP00000368190.4:p.Gln1148Ter
ENST00000353632.6:c.3322C>T ENSP00000343634.5:p.Gln1108Ter
ENST00000378910.9:c.3442C>T ENSP00000368190.4:p.Gln1148Ter
NM_004646.3:c.3442C>T , LRG_693t1:c.3442C>T NP_004637.1:p.Gln1148Ter
NM_004646.4:c.3442C>T MANE Select NP_004637.1:p.Gln1148Ter