Canonical Allele Identifier: CA2333850730
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849107G= , CM000681.2:g.35849107G= GRCh38
NC_000019.9:g.36340009G= , CM000681.1:g.36340009G= GRCh37
NC_000019.8:g.41031849G= NCBI36
NG_013356.2:g.25181C= , LRG_693:g.25181C=
NG_051206.1:g.2473G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.881C= MANE Select ENSP00000368190.4:p.Thr294=
ENST00000353632.6:c.881C= ENSP00000343634.5:p.Thr294=
ENST00000378910.9:c.881C= ENSP00000368190.4:p.Thr294=
NM_004646.3:c.881C= , LRG_693t1:c.881C= NP_004637.1:p.Thr294=
NM_004646.4:c.881C= MANE Select NP_004637.1:p.Thr294=