Canonical Allele Identifier: CA2333851567
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850889G= , CM000681.2:g.35850889G= GRCh38
NC_000019.9:g.36341791G= , CM000681.1:g.36341791G= GRCh37
NC_000019.8:g.41033631G= NCBI36
NG_013356.2:g.23399C= , LRG_693:g.23399C=
NG_051206.1:g.4255G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.526+72C= MANE Select ENSP00000368190.4:n.526+72C=
ENST00000353632.6:c.526+72C= ENSP00000343634.5:n.526+72C=
ENST00000378910.9:c.526+72C= ENSP00000368190.4:n.526+72C=
NM_004646.3:c.526+72C= , LRG_693t1:c.526+72C= NP_004637.1:n.526+72C=
NM_004646.4:c.526+72C= MANE Select NP_004637.1:n.526+72C=
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