Canonical Allele Identifier: CA9390653
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2148753
ClinVar RCV Id: RCV003063551 RCV003906475
dbSNP Id: rs755132744
ExAC: 19:36340182 C / T
gnomAD v2: 19-36340182-C-T
gnomAD v3: 19-35849280-C-T
gnomAD v4: 19-35849280-C-T
MyVariant Identifiers: chr19:g.36340182C>T (hg19) chr19:g.35849280C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849280C>T , CM000681.2:g.35849280C>T GRCh38
NC_000019.9:g.36340182C>T , CM000681.1:g.36340182C>T GRCh37
NC_000019.8:g.41032022C>T NCBI36
NG_013356.2:g.25008G>A , LRG_693:g.25008G>A
NG_051206.1:g.2646C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.796G>A MANE Select ENSP00000368190.4:p.Val266Met
ENST00000353632.6:c.796G>A ENSP00000343634.5:p.Val266Met
ENST00000378910.9:c.796G>A ENSP00000368190.4:p.Val266Met
NM_004646.3:c.796G>A , LRG_693t1:c.796G>A NP_004637.1:p.Val266Met
NM_004646.4:c.796G>A MANE Select NP_004637.1:p.Val266Met
Search 100 bp 5'
Search 100 bp 3'