Canonical Allele Identifier: CA9390655
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1339085
ClinVar RCV Id: RCV001823539 RCV001869816
dbSNP Id: rs748287435
ExAC: 19:36340184 C / G
gnomAD v2: 19-36340184-C-G
gnomAD v3: 19-35849282-C-G
gnomAD v4: 19-35849282-C-G
MyVariant Identifiers: chr19:g.36340184C>G (hg19) chr19:g.35849282C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849282C>G , CM000681.2:g.35849282C>G GRCh38
NC_000019.9:g.36340184C>G , CM000681.1:g.36340184C>G GRCh37
NC_000019.8:g.41032024C>G NCBI36
NG_013356.2:g.25006G>C , LRG_693:g.25006G>C
NG_051206.1:g.2648C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.794G>C MANE Select ENSP00000368190.4:p.Cys265Ser
ENST00000353632.6:c.794G>C ENSP00000343634.5:p.Cys265Ser
ENST00000378910.9:c.794G>C ENSP00000368190.4:p.Cys265Ser
NM_004646.3:c.794G>C , LRG_693t1:c.794G>C NP_004637.1:p.Cys265Ser
NM_004646.4:c.794G>C MANE Select NP_004637.1:p.Cys265Ser
Search 100 bp 5'
Search 100 bp 3'