Canonical Allele Identifier: CA2333851300
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850278A= , CM000681.2:g.35850278A= GRCh38
NC_000019.9:g.36341180A= , CM000681.1:g.36341180A= GRCh37
NC_000019.8:g.41033020A= NCBI36
NG_013356.2:g.24010T= , LRG_693:g.24010T=
NG_051206.1:g.3644A=

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.608+86T= MANE Select ENSP00000368190.4:n.608+86T=
ENST00000353632.6:c.608+86T= ENSP00000343634.5:n.608+86T=
ENST00000378910.9:c.608+86T= ENSP00000368190.4:n.608+86T=
NM_004646.3:c.608+86T= , LRG_693t1:c.608+86T= NP_004637.1:n.608+86T=
NM_004646.4:c.608+86T= MANE Select NP_004637.1:n.608+86T=
Search 100 bp 5'
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