Canonical Allele Identifier: CA507084964
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2818457
ClinVar RCV Id: RCV003713714
dbSNP Id: rs1973181026
gnomAD v3: 19-35848658-G-A
gnomAD v4: 19-35848658-G-A
MyVariant Identifiers: chr19:g.36339560G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848658G>A , CM000681.2:g.35848658G>A GRCh38
NC_000019.9:g.36339560G>A , CM000681.1:g.36339560G>A GRCh37
NC_000019.8:g.41031400G>A NCBI36
NG_013356.2:g.25630C>T , LRG_693:g.25630C>T
NG_051206.1:g.2024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1149C>T MANE Select ENSP00000368190.4:p.Pro383=
ENST00000353632.6:c.1149C>T ENSP00000343634.5:p.Pro383=
ENST00000378910.9:c.1149C>T ENSP00000368190.4:p.Pro383=
ENST00000592132.1:n.156C>T
NM_004646.3:c.1149C>T , LRG_693t1:c.1149C>T NP_004637.1:p.Pro383=
NM_004646.4:c.1149C>T MANE Select NP_004637.1:p.Pro383=
Search 100 bp 5'
Search 100 bp 3'