Canonical Allele Identifier: CA507085991
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2809616
ClinVar RCV Id: RCV003680038
dbSNP Id: rs1973237159
gnomAD v3: 19-35850983-T-A
gnomAD v4: 19-35850983-T-A
MyVariant Identifiers: chr19:g.36341885T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850983T>A , CM000681.2:g.35850983T>A GRCh38
NC_000019.9:g.36341885T>A , CM000681.1:g.36341885T>A GRCh37
NC_000019.8:g.41033725T>A NCBI36
NG_013356.2:g.23305A>T , LRG_693:g.23305A>T
NG_051206.1:g.4349T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.504A>T MANE Select ENSP00000368190.4:p.Ala168=
ENST00000353632.6:c.504A>T ENSP00000343634.5:p.Ala168=
ENST00000378910.9:c.504A>T ENSP00000368190.4:p.Ala168=
NM_004646.3:c.504A>T , LRG_693t1:c.504A>T NP_004637.1:p.Ala168=
NM_004646.4:c.504A>T MANE Select NP_004637.1:p.Ala168=
Search 100 bp 5'
Search 100 bp 3'