Canonical Allele Identifier: CA881821948
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1184872146
gnomAD v3: 19-35841972-A-G
gnomAD v4: 19-35841972-A-G
MyVariant Identifiers: chr19:g.36332874A>G (hg19) chr19:g.35841972A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35841972A>G , CM000681.2:g.35841972A>G GRCh38
NC_000019.9:g.36332874A>G , CM000681.1:g.36332874A>G GRCh37
NC_000019.8:g.41024714A>G NCBI36
NG_013356.2:g.32316T>C , LRG_693:g.32316T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2664-106T>C MANE Select ENSP00000368190.4:n.2664-106T>C
ENST00000353632.6:c.2664-106T>C ENSP00000343634.5:n.2664-106T>C
ENST00000378910.9:c.2664-106T>C ENSP00000368190.4:n.2664-106T>C
NM_004646.3:c.2664-106T>C , LRG_693t1:c.2664-106T>C NP_004637.1:n.2664-106T>C
NM_004646.4:c.2664-106T>C MANE Select NP_004637.1:n.2664-106T>C
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