Canonical Allele Identifier: CA230389694
Gene: ROBO3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2255982
ClinVar RCV Id: RCV002807783
dbSNP Id: rs528787628
gnomAD v2: 11-124742943-C-A
gnomAD v3: 11-124873047-C-A
gnomAD v4: 11-124873047-C-A
MyVariant Identifiers: chr11:g.124742943C>A (hg19) chr11:g.124873047C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124873047C>A , CM000673.2:g.124873047C>A GRCh38
NC_000011.9:g.124742943C>A , CM000673.1:g.124742943C>A GRCh37
NC_000011.8:g.124248153C>A NCBI36
NG_016214.1:g.12639C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1494C>A MANE Select ENSP00000380903.1:p.Phe498Leu
ENST00000397801.5:c.1494C>A ENSP00000380903.1:p.Phe498Leu
ENST00000538940.5:c.1428C>A ENSP00000441797.1:p.Phe476Leu
NM_022370.3:c.1494C>A NP_071765.2:p.Phe498Leu
XM_011542953.1:c.2466C>A XP_011541255.1:p.Phe822Leu
XM_017018122.1:c.1428C>A XP_016873611.1:p.Phe476Leu
NM_022370.4:c.1494C>A MANE Select NP_071765.2:p.Phe498Leu
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