Canonical Allele Identifier: CA2333847183
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35841716G= , CM000681.2:g.35841716G= GRCh38
NC_000019.9:g.36332618G= , CM000681.1:g.36332618G= GRCh37
NC_000019.8:g.41024458G= NCBI36
NG_013356.2:g.32572C= , LRG_693:g.32572C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2814C= MANE Select ENSP00000368190.4:p.Ile938=
ENST00000353632.6:c.2814C= ENSP00000343634.5:p.Ile938=
ENST00000378910.9:c.2814C= ENSP00000368190.4:p.Ile938=
NM_004646.3:c.2814C= , LRG_693t1:c.2814C= NP_004637.1:p.Ile938=
NM_004646.4:c.2814C= MANE Select NP_004637.1:p.Ile938=
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