Canonical Allele Identifier: CA9390706
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290122
ClinVar RCV Id: RCV000361967 RCV001125721 RCV001272299 RCV003417918
dbSNP Id: rs115333628
ExAC: 19:36340506 A / C
gnomAD v2: 19-36340506-A-C
gnomAD v3: 19-35849604-A-C
gnomAD v4: 19-35849604-A-C
MyVariant Identifiers: chr19:g.36340506A>C (hg19) chr19:g.35849604A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849604A>C , CM000681.2:g.35849604A>C GRCh38
NC_000019.9:g.36340506A>C , CM000681.1:g.36340506A>C GRCh37
NC_000019.8:g.41032346A>C NCBI36
NG_013356.2:g.24684T>G , LRG_693:g.24684T>G
NG_051206.1:g.2970A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.658T>G MANE Select ENSP00000368190.4:p.Ser220Ala
ENST00000353632.6:c.658T>G ENSP00000343634.5:p.Ser220Ala
ENST00000378910.9:c.658T>G ENSP00000368190.4:p.Ser220Ala
NM_004646.3:c.658T>G , LRG_693t1:c.658T>G NP_004637.1:p.Ser220Ala
NM_004646.4:c.658T>G MANE Select NP_004637.1:p.Ser220Ala
Search 100 bp 5'
Search 100 bp 3'