Canonical Allele Identifier: CA250270
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56521
dbSNP Id: rs386833959

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849340C>A , CM000681.2:g.35849340C>A GRCh38
NC_000019.9:g.36340242C>A , CM000681.1:g.36340242C>A GRCh37
NC_000019.8:g.41032082C>A NCBI36
NG_013356.2:g.24948G>T , LRG_693:g.24948G>T
NG_051206.1:g.2706C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.736G>T MANE Select ENSP00000368190.4:p.Glu246Ter
ENST00000353632.6:c.736G>T ENSP00000343634.5:p.Glu246Ter
ENST00000378910.9:c.736G>T ENSP00000368190.4:p.Glu246Ter
NM_004646.3:c.736G>T , LRG_693t1:c.736G>T NP_004637.1:p.Glu246Ter
NM_004646.4:c.736G>T MANE Select NP_004637.1:p.Glu246Ter