Canonical Allele Identifier: CA405391683
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 592033
ClinVar RCV Id: RCV000723217
dbSNP Id: rs1568453194
MyVariant Identifiers: chr19:g.36333101C>A (hg19) chr19:g.35842199C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842199C>A , CM000681.2:g.35842199C>A GRCh38
NC_000019.9:g.36333101C>A , CM000681.1:g.36333101C>A GRCh37
NC_000019.8:g.41024941C>A NCBI36
NG_013356.2:g.32089G>T , LRG_693:g.32089G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2588G>T MANE Select ENSP00000368190.4:p.Cys863Phe
ENST00000353632.6:c.2588G>T ENSP00000343634.5:p.Cys863Phe
ENST00000378910.9:c.2588G>T ENSP00000368190.4:p.Cys863Phe
NM_004646.3:c.2588G>T , LRG_693t1:c.2588G>T NP_004637.1:p.Cys863Phe
NM_004646.4:c.2588G>T MANE Select NP_004637.1:p.Cys863Phe
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