Canonical Allele Identifier: CA2333850873
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849370G= , CM000681.2:g.35849370G= GRCh38
NC_000019.9:g.36340272G= , CM000681.1:g.36340272G= GRCh37
NC_000019.8:g.41032112G= NCBI36
NG_013356.2:g.24918C= , LRG_693:g.24918C=
NG_051206.1:g.2736G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.713-7C= MANE Select ENSP00000368190.4:n.713-7C=
ENST00000353632.6:c.713-7C= ENSP00000343634.5:n.713-7C=
ENST00000378910.9:c.713-7C= ENSP00000368190.4:n.713-7C=
NM_004646.3:c.713-7C= , LRG_693t1:c.713-7C= NP_004637.1:n.713-7C=
NM_004646.4:c.713-7C= MANE Select NP_004637.1:n.713-7C=