Canonical Allele Identifier: CA9390640
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259507
ClinVar RCV Id: RCV000253852 RCV001411745
dbSNP Id: rs757668116
ExAC: 19:36340130 G / GC
gnomAD v2: 19-36340130-G-GC
gnomAD v3: 19-35849228-G-GC
gnomAD v4: 19-35849228-G-GC
MyVariant Identifiers: chr19:g.36340131dup (hg19) chr19:g.36340131dupC (hg19) chr19:g.36340130_36340131insC (hg19) chr19:g.35849229dupC (hg38) chr19:g.35849228_35849229insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849231dup , CM000681.2:g.35849231dup GRCh38
NC_000019.9:g.36340133dup , CM000681.1:g.36340133dup GRCh37
NC_000019.8:g.41031973dup NCBI36
NG_013356.2:g.25059dup , LRG_693:g.25059dup
NG_051206.1:g.2597dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.840+7dup MANE Select ENSP00000368190.4:n.840+7dup
ENST00000353632.6:c.840+7dup ENSP00000343634.5:n.840+7dup
ENST00000378910.9:c.840+7dup ENSP00000368190.4:n.840+7dup
NM_004646.3:c.840+7dup , LRG_693t1:c.840+7dup NP_004637.1:n.840+7dup
NM_004646.4:c.840+7dup MANE Select NP_004637.1:n.840+7dup
Search 100 bp 5'
Search 100 bp 3'