Canonical Allele Identifier: CA6343478
Gene: ROBO3 HGNC NCBI

Linked Data

ClinVar Variation Id: 632151
ClinVar RCV Id: RCV000779048
dbSNP Id: rs771613910
ExAC: 11:124742828 A / G
gnomAD v2: 11-124742828-A-G
gnomAD v3: 11-124872932-A-G
gnomAD v4: 11-124872932-A-G
MyVariant Identifiers: chr11:g.124742828A>G (hg19) chr11:g.124872932A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872932A>G , CM000673.2:g.124872932A>G GRCh38
NC_000011.9:g.124742828A>G , CM000673.1:g.124742828A>G GRCh37
NC_000011.8:g.124248038A>G NCBI36
NG_016214.1:g.12524A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1379A>G MANE Select ENSP00000380903.1:p.Gln460Arg
ENST00000397801.5:c.1379A>G ENSP00000380903.1:p.Gln460Arg
ENST00000538940.5:c.1313A>G ENSP00000441797.1:p.Gln438Arg
NM_022370.3:c.1379A>G NP_071765.2:p.Gln460Arg
XM_011542953.1:c.2351A>G XP_011541255.1:p.Gln784Arg
XM_017018122.1:c.1313A>G XP_016873611.1:p.Gln438Arg
NM_022370.4:c.1379A>G MANE Select NP_071765.2:p.Gln460Arg
Search 100 bp 5'
Search 100 bp 3'