Canonical Allele Identifier: CA9390639
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1664880
ClinVar RCV Id: RCV002203055
dbSNP Id: rs376240874
ExAC: 19:36340126 G / A
gnomAD v2: 19-36340126-G-A
gnomAD v3: 19-35849224-G-A
gnomAD v4: 19-35849224-G-A
MyVariant Identifiers: chr19:g.36340126G>A (hg19) chr19:g.36340126_36340127delinsAT (hg19) chr19:g.35849224G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849224G>A , CM000681.2:g.35849224G>A GRCh38
NC_000019.9:g.36340126G>A , CM000681.1:g.36340126G>A GRCh37
NC_000019.8:g.41031966G>A NCBI36
NG_013356.2:g.25064C>T , LRG_693:g.25064C>T
NG_051206.1:g.2590G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.840+12C>T MANE Select ENSP00000368190.4:n.840+12C>T
ENST00000353632.6:c.840+12C>T ENSP00000343634.5:n.840+12C>T
ENST00000378910.9:c.840+12C>T ENSP00000368190.4:n.840+12C>T
NM_004646.3:c.840+12C>T , LRG_693t1:c.840+12C>T NP_004637.1:n.840+12C>T
NM_004646.4:c.840+12C>T MANE Select NP_004637.1:n.840+12C>T
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