Canonical Allele Identifier: CA405406988
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2677287
ClinVar RCV Id: RCV003463188
dbSNP Id: rs1374214589
gnomAD v2: 19-36340137-C-A
gnomAD v4: 19-35849235-C-A
MyVariant Identifiers: chr19:g.36340137C>A (hg19) chr19:g.35849235C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849235C>A , CM000681.2:g.35849235C>A GRCh38
NC_000019.9:g.36340137C>A , CM000681.1:g.36340137C>A GRCh37
NC_000019.8:g.41031977C>A NCBI36
NG_013356.2:g.25053G>T , LRG_693:g.25053G>T
NG_051206.1:g.2601C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.840+1G>T MANE Select ENSP00000368190.4:n.840+1G>T
ENST00000353632.6:c.840+1G>T ENSP00000343634.5:n.840+1G>T
ENST00000378910.9:c.840+1G>T ENSP00000368190.4:n.840+1G>T
NM_004646.3:c.840+1G>T , LRG_693t1:c.840+1G>T NP_004637.1:n.840+1G>T
NM_004646.4:c.840+1G>T MANE Select NP_004637.1:n.840+1G>T
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