Canonical Allele Identifier: CA632775041
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1568447897
gnomAD v2: 19-36317556-CA-C
gnomAD v4: 19-35826654-CA-C
MyVariant Identifiers: chr19:g.36317557del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826659del , CM000681.2:g.35826659del GRCh38
NC_000019.9:g.36317561del , CM000681.1:g.36317561del GRCh37
NC_000019.8:g.41009401del NCBI36
NG_013356.2:g.47633del , LRG_693:g.47633del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-10del MANE Select ENSP00000368190.4:n.3595-10del
ENST00000353632.6:c.3475-10del ENSP00000343634.5:n.3475-10del
ENST00000378910.9:c.3595-10del ENSP00000368190.4:n.3595-10del
NM_004646.3:c.3595-10del , LRG_693t1:c.3595-10del NP_004637.1:n.3595-10del
NM_004646.4:c.3595-10del MANE Select NP_004637.1:n.3595-10del
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