Canonical Allele Identifier: CA10642637
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328876
ClinVar RCV Id: RCV003708517 RCV000279896
dbSNP Id: rs886054352
MyVariant Identifiers: chr19:g.36340252G>A (hg19) chr19:g.35849350G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849350G>A , CM000681.2:g.35849350G>A GRCh38
NC_000019.9:g.36340252G>A , CM000681.1:g.36340252G>A GRCh37
NC_000019.8:g.41032092G>A NCBI36
NG_013356.2:g.24938C>T , LRG_693:g.24938C>T
NG_051206.1:g.2716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.726C>T MANE Select ENSP00000368190.4:p.Pro242=
ENST00000353632.6:c.726C>T ENSP00000343634.5:p.Pro242=
ENST00000378910.9:c.726C>T ENSP00000368190.4:p.Pro242=
NM_004646.3:c.726C>T , LRG_693t1:c.726C>T NP_004637.1:p.Pro242=
NM_004646.4:c.726C>T MANE Select NP_004637.1:p.Pro242=
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