Canonical Allele Identifier: CA2333850477
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848605G= , CM000681.2:g.35848605G= GRCh38
NC_000019.9:g.36339507G= , CM000681.1:g.36339507G= GRCh37
NC_000019.8:g.41031347G= NCBI36
NG_013356.2:g.25683C= , LRG_693:g.25683C=
NG_051206.1:g.1971G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1170+32C= MANE Select ENSP00000368190.4:n.1170+32C=
ENST00000353632.6:c.1170+32C= ENSP00000343634.5:n.1170+32C=
ENST00000378910.9:c.1170+32C= ENSP00000368190.4:n.1170+32C=
ENST00000592132.1:n.177+32C=
NM_004646.3:c.1170+32C= , LRG_693t1:c.1170+32C= NP_004637.1:n.1170+32C=
NM_004646.4:c.1170+32C= MANE Select NP_004637.1:n.1170+32C=