Canonical Allele Identifier: CA9390115
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2187623
ClinVar RCV Id: RCV002623577
dbSNP Id: rs771168504
ExAC: 19:36333268 G / T
gnomAD v2: 19-36333268-G-T
gnomAD v3: 19-35842366-G-T
gnomAD v4: 19-35842366-G-T
MyVariant Identifiers: chr19:g.36333268G>T (hg19) chr19:g.35842366G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842366G>T , CM000681.2:g.35842366G>T GRCh38
NC_000019.9:g.36333268G>T , CM000681.1:g.36333268G>T GRCh37
NC_000019.8:g.41025108G>T NCBI36
NG_013356.2:g.31922C>A , LRG_693:g.31922C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2506+13C>A MANE Select ENSP00000368190.4:n.2506+13C>A
ENST00000353632.6:c.2506+13C>A ENSP00000343634.5:n.2506+13C>A
ENST00000378910.9:c.2506+13C>A ENSP00000368190.4:n.2506+13C>A
NM_004646.3:c.2506+13C>A , LRG_693t1:c.2506+13C>A NP_004637.1:n.2506+13C>A
NM_004646.4:c.2506+13C>A MANE Select NP_004637.1:n.2506+13C>A
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