Canonical Allele Identifier: CA2333841970
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35831023T= , CM000681.2:g.35831023T= GRCh38
NC_000019.9:g.36321925T= , CM000681.1:g.36321925T= GRCh37
NC_000019.8:g.41013765T= NCBI36
NG_013356.2:g.43265A= , LRG_693:g.43265A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3481+30A= MANE Select ENSP00000368190.4:n.3481+30A=
ENST00000353632.6:c.3361+30A= ENSP00000343634.5:n.3361+30A=
ENST00000378910.9:c.3481+30A= ENSP00000368190.4:n.3481+30A=
NM_004646.3:c.3481+30A= , LRG_693t1:c.3481+30A= NP_004637.1:n.3481+30A=
NM_004646.4:c.3481+30A= MANE Select NP_004637.1:n.3481+30A=