Canonical Allele Identifier: CA2333851601
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850972G= , CM000681.2:g.35850972G= GRCh38
NC_000019.9:g.36341874G= , CM000681.1:g.36341874G= GRCh37
NC_000019.8:g.41033714G= NCBI36
NG_013356.2:g.23316C= , LRG_693:g.23316C=
NG_051206.1:g.4338G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.515C= MANE Select ENSP00000368190.4:p.Thr172=
ENST00000353632.6:c.515C= ENSP00000343634.5:p.Thr172=
ENST00000378910.9:c.515C= ENSP00000368190.4:p.Thr172=
NM_004646.3:c.515C= , LRG_693t1:c.515C= NP_004637.1:p.Thr172=
NM_004646.4:c.515C= MANE Select NP_004637.1:p.Thr172=