Canonical Allele Identifier: CA9390387
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447874
ClinVar RCV Id: RCV001277293 RCV001127721 RCV002060249 RCV003942697
dbSNP Id: rs149598144
ExAC: 19:36336918 G / T
gnomAD v2: 19-36336918-G-T
gnomAD v3: 19-35846016-G-T
gnomAD v4: 19-35846016-G-T
MyVariant Identifiers: chr19:g.36336918G>T (hg19) chr19:g.35846016G>T (hg38)
PubMed: PMID:24371179
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846016G>T , CM000681.2:g.35846016G>T GRCh38
NC_000019.9:g.36336918G>T , CM000681.1:g.36336918G>T GRCh37
NC_000019.8:g.41028758G>T NCBI36
NG_013356.2:g.28272C>A , LRG_693:g.28272C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1619C>A MANE Select ENSP00000368190.4:p.Ala540Glu
ENST00000353632.6:c.1619C>A ENSP00000343634.5:p.Ala540Glu
ENST00000378910.9:c.1619C>A ENSP00000368190.4:p.Ala540Glu
NM_004646.3:c.1619C>A , LRG_693t1:c.1619C>A NP_004637.1:p.Ala540Glu
NM_004646.4:c.1619C>A MANE Select NP_004637.1:p.Ala540Glu
Search 100 bp 5'
Search 100 bp 3'