Canonical Allele Identifier: CA9390391
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 725763
ClinVar RCV Id: RCV000899876
dbSNP Id: rs761166929
ExAC: 19:36336941 C / T
gnomAD v2: 19-36336941-C-T
gnomAD v3: 19-35846039-C-T
gnomAD v4: 19-35846039-C-T
MyVariant Identifiers: chr19:g.36336941C>T (hg19) chr19:g.35846039C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846039C>T , CM000681.2:g.35846039C>T GRCh38
NC_000019.9:g.36336941C>T , CM000681.1:g.36336941C>T GRCh37
NC_000019.8:g.41028781C>T NCBI36
NG_013356.2:g.28249G>A , LRG_693:g.28249G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1596G>A MANE Select ENSP00000368190.4:p.Gln532=
ENST00000353632.6:c.1596G>A ENSP00000343634.5:p.Gln532=
ENST00000378910.9:c.1596G>A ENSP00000368190.4:p.Gln532=
NM_004646.3:c.1596G>A , LRG_693t1:c.1596G>A NP_004637.1:p.Gln532=
NM_004646.4:c.1596G>A MANE Select NP_004637.1:p.Gln532=
Search 100 bp 5'
Search 100 bp 3'