Canonical Allele Identifier: CA2333839520
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826668A= , CM000681.2:g.35826668A= GRCh38
NC_000019.9:g.36317570A= , CM000681.1:g.36317570A= GRCh37
NC_000019.8:g.41009410A= NCBI36
NG_013356.2:g.47620T= , LRG_693:g.47620T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-23T= MANE Select ENSP00000368190.4:n.3595-23T=
ENST00000353632.6:c.3475-23T= ENSP00000343634.5:n.3475-23T=
ENST00000378910.9:c.3595-23T= ENSP00000368190.4:n.3595-23T=
NM_004646.3:c.3595-23T= , LRG_693t1:c.3595-23T= NP_004637.1:n.3595-23T=
NM_004646.4:c.3595-23T= MANE Select NP_004637.1:n.3595-23T=
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