Canonical Allele Identifier: CA2333850239
Gene: NPHS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848432A= , CM000681.2:g.35848432A= GRCh38
NC_000019.9:g.36339334A= , CM000681.1:g.36339334A= GRCh37
NC_000019.8:g.41031174A= NCBI36
NG_013356.2:g.25856T= , LRG_693:g.25856T=
NG_051206.1:g.1798A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1171-35T= MANE Select ENSP00000368190.4:n.1171-35T=
ENST00000353632.6:c.1171-35T= ENSP00000343634.5:n.1171-35T=
ENST00000378910.9:c.1171-35T= ENSP00000368190.4:n.1171-35T=
ENST00000592132.1:n.178-35T=
NM_004646.3:c.1171-35T= , LRG_693t1:c.1171-35T= NP_004637.1:n.1171-35T=
NM_004646.4:c.1171-35T= MANE Select NP_004637.1:n.1171-35T=
Search 100 bp 5'
Search 100 bp 3'