Canonical Allele Identifier: CA2576759050
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850876T>G , CM000681.2:g.35850876T>G GRCh38
NC_000019.9:g.36341778T>G , CM000681.1:g.36341778T>G GRCh37
NC_000019.8:g.41033618T>G NCBI36
NG_013356.2:g.23412A>C , LRG_693:g.23412A>C
NG_051206.1:g.4242T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.526+85A>C MANE Select ENSP00000368190.4:n.526+85A>C
ENST00000353632.6:c.526+85A>C ENSP00000343634.5:n.526+85A>C
ENST00000378910.9:c.526+85A>C ENSP00000368190.4:n.526+85A>C
NM_004646.3:c.526+85A>C , LRG_693t1:c.526+85A>C NP_004637.1:n.526+85A>C
NM_004646.4:c.526+85A>C MANE Select NP_004637.1:n.526+85A>C
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