Canonical Allele Identifier: CA9390680
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2140899
ClinVar RCV Id: RCV003056683
dbSNP Id: rs372079888
ExAC: 19:36340275 A / G
gnomAD v2: 19-36340275-A-G
gnomAD v3: 19-35849373-A-G
gnomAD v4: 19-35849373-A-G
MyVariant Identifiers: chr19:g.36340275A>G (hg19) chr19:g.35849373A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849373A>G , CM000681.2:g.35849373A>G GRCh38
NC_000019.9:g.36340275A>G , CM000681.1:g.36340275A>G GRCh37
NC_000019.8:g.41032115A>G NCBI36
NG_013356.2:g.24915T>C , LRG_693:g.24915T>C
NG_051206.1:g.2739A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.713-10T>C MANE Select ENSP00000368190.4:n.713-10T>C
ENST00000353632.6:c.713-10T>C ENSP00000343634.5:n.713-10T>C
ENST00000378910.9:c.713-10T>C ENSP00000368190.4:n.713-10T>C
NM_004646.3:c.713-10T>C , LRG_693t1:c.713-10T>C NP_004637.1:n.713-10T>C
NM_004646.4:c.713-10T>C MANE Select NP_004637.1:n.713-10T>C
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