Canonical Allele Identifier: CA2333839551
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826705G= , CM000681.2:g.35826705G= GRCh38
NC_000019.9:g.36317607G= , CM000681.1:g.36317607G= GRCh37
NC_000019.8:g.41009447G= NCBI36
NG_013356.2:g.47583C= , LRG_693:g.47583C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-60C= MANE Select ENSP00000368190.4:n.3595-60C=
ENST00000353632.6:c.3475-60C= ENSP00000343634.5:n.3475-60C=
ENST00000378910.9:c.3595-60C= ENSP00000368190.4:n.3595-60C=
NM_004646.3:c.3595-60C= , LRG_693t1:c.3595-60C= NP_004637.1:n.3595-60C=
NM_004646.4:c.3595-60C= MANE Select NP_004637.1:n.3595-60C=