Canonical Allele Identifier: CA6343449
Gene: ROBO3 HGNC NCBI

Linked Data

ClinVar Variation Id: 303236
ClinVar RCV Id: RCV000308912
dbSNP Id: rs4935898
ExAC: 11:124742385 G / A
gnomAD v2: 11-124742385-G-A
gnomAD v3: 11-124872489-G-A
gnomAD v4: 11-124872489-G-A
MyVariant Identifiers: chr11:g.124742385G>A (hg19) chr11:g.124872489G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872489G>A , CM000673.2:g.124872489G>A GRCh38
NC_000011.9:g.124742385G>A , CM000673.1:g.124742385G>A GRCh37
NC_000011.8:g.124247595G>A NCBI36
NG_016214.1:g.12081G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1267G>A MANE Select ENSP00000380903.1:p.Val423Met
ENST00000397801.5:c.1267G>A ENSP00000380903.1:p.Val423Met
ENST00000538940.5:c.1201G>A ENSP00000441797.1:p.Val401Met
NM_022370.3:c.1267G>A NP_071765.2:p.Val423Met
XM_011542953.1:c.2239G>A XP_011541255.1:p.Val747Met
XM_017018122.1:c.1201G>A XP_016873611.1:p.Val401Met
NM_022370.4:c.1267G>A MANE Select NP_071765.2:p.Val423Met
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