Canonical Allele Identifier: CA9389696
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs751911317
ExAC: 19:36317584 A / G
gnomAD v2: 19-36317584-A-G
gnomAD v3: 19-35826682-A-G
gnomAD v4: 19-35826682-A-G
MyVariant Identifiers: chr19:g.36317584A>G (hg19) chr19:g.35826682A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826682A>G , CM000681.2:g.35826682A>G GRCh38
NC_000019.9:g.36317584A>G , CM000681.1:g.36317584A>G GRCh37
NC_000019.8:g.41009424A>G NCBI36
NG_013356.2:g.47606T>C , LRG_693:g.47606T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3595-37T>C MANE Select ENSP00000368190.4:n.3595-37T>C
ENST00000353632.6:c.3475-37T>C ENSP00000343634.5:n.3475-37T>C
ENST00000378910.9:c.3595-37T>C ENSP00000368190.4:n.3595-37T>C
NM_004646.3:c.3595-37T>C , LRG_693t1:c.3595-37T>C NP_004637.1:n.3595-37T>C
NM_004646.4:c.3595-37T>C MANE Select NP_004637.1:n.3595-37T>C
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