Canonical Allele Identifier: CA2580096865
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2106528
ClinVar RCV Id: RCV003026523
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35831037C>T , CM000681.2:g.35831037C>T GRCh38
NC_000019.9:g.36321939C>T , CM000681.1:g.36321939C>T GRCh37
NC_000019.8:g.41013779C>T NCBI36
NG_013356.2:g.43251G>A , LRG_693:g.43251G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3481+16G>A MANE Select ENSP00000368190.4:n.3481+16G>A
ENST00000353632.6:c.3361+16G>A ENSP00000343634.5:n.3361+16G>A
ENST00000378910.9:c.3481+16G>A ENSP00000368190.4:n.3481+16G>A
NM_004646.3:c.3481+16G>A , LRG_693t1:c.3481+16G>A NP_004637.1:n.3481+16G>A
NM_004646.4:c.3481+16G>A MANE Select NP_004637.1:n.3481+16G>A
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