Canonical Allele Identifier: CA9390447
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2151692
ClinVar RCV Id: RCV003074803
dbSNP Id: rs369636803
ExAC: 19:36338979 G / A
gnomAD v2: 19-36338979-G-A
gnomAD v3: 19-35848077-G-A
gnomAD v4: 19-35848077-G-A
COSMIC: COSM995262
MyVariant Identifiers: chr19:g.36338979G>A (hg19) chr19:g.35848077G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848077G>A , CM000681.2:g.35848077G>A GRCh38
NC_000019.9:g.36338979G>A , CM000681.1:g.36338979G>A GRCh37
NC_000019.8:g.41030819G>A NCBI36
NG_013356.2:g.26211C>T , LRG_693:g.26211C>T
NG_051206.1:g.1443G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1404C>T MANE Select ENSP00000368190.4:p.Ile468=
ENST00000353632.6:c.1404C>T ENSP00000343634.5:p.Ile468=
ENST00000378910.9:c.1404C>T ENSP00000368190.4:p.Ile468=
ENST00000592132.1:n.411C>T
NM_004646.3:c.1404C>T , LRG_693t1:c.1404C>T NP_004637.1:p.Ile468=
NM_004646.4:c.1404C>T MANE Select NP_004637.1:p.Ile468=
Search 100 bp 5'
Search 100 bp 3'