Canonical Allele Identifier: CA881819639
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1249306434
gnomAD v4: 19-35848439-CT-C
MyVariant Identifiers: chr19:g.36339342del (hg19) chr19:g.35848440del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848440del , CM000681.2:g.35848440del GRCh38
NC_000019.9:g.36339342del , CM000681.1:g.36339342del GRCh37
NC_000019.8:g.41031182del NCBI36
NG_013356.2:g.25848del , LRG_693:g.25848del
NG_051206.1:g.1806del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1171-43del MANE Select ENSP00000368190.4:n.1171-43del
ENST00000353632.6:c.1171-43del ENSP00000343634.5:n.1171-43del
ENST00000378910.9:c.1171-43del ENSP00000368190.4:n.1171-43del
ENST00000592132.1:n.178-43del
NM_004646.3:c.1171-43del , LRG_693t1:c.1171-43del NP_004637.1:n.1171-43del
NM_004646.4:c.1171-43del MANE Select NP_004637.1:n.1171-43del
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