Canonical Allele Identifier: CA10652380
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328877
ClinVar RCV Id: RCV000407307
dbSNP Id: rs886054353
gnomAD v4: 19-35850982-G-T
MyVariant Identifiers: chr19:g.36341884G>T (hg19) chr19:g.35850982G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850982G>T , CM000681.2:g.35850982G>T GRCh38
NC_000019.9:g.36341884G>T , CM000681.1:g.36341884G>T GRCh37
NC_000019.8:g.41033724G>T NCBI36
NG_013356.2:g.23306C>A , LRG_693:g.23306C>A
NG_051206.1:g.4348G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.505C>A MANE Select ENSP00000368190.4:p.Pro169Thr
ENST00000353632.6:c.505C>A ENSP00000343634.5:p.Pro169Thr
ENST00000378910.9:c.505C>A ENSP00000368190.4:p.Pro169Thr
NM_004646.3:c.505C>A , LRG_693t1:c.505C>A NP_004637.1:p.Pro169Thr
NM_004646.4:c.505C>A MANE Select NP_004637.1:p.Pro169Thr
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