Canonical Allele Identifier: CA6343498

Gene: ROBO3

Linked Data

• ClinVar Variation Id: 711918
• ClinVar RCV Id: RCV000883750
• dbSNP Id: rs144055440
• ExAC: 11:124742934 C / T
• gnomAD v2: 11-124742934-C-T
• gnomAD v3: 11-124873038-C-T
• gnomAD v4: 11-124873038-C-T
• MyVariant Identifiers: chr11:g.124742934C>T (hg19) ; chr11:g.124873038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124873038C>T , CM000673.2:g.124873038C>T	GRCh38
NC_000011.9:g.124742934C>T , CM000673.1:g.124742934C>T	GRCh37
NC_000011.8:g.124248144C>T	NCBI36
NG_016214.1:g.12630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397801.6:c.1485C>T MANE Select	ENSP00000380903.1:p.Asp495=
ENST00000397801.5:c.1485C>T	ENSP00000380903.1:p.Asp495=
ENST00000538940.5:c.1419C>T	ENSP00000441797.1:p.Asp473=
NM_022370.3:c.1485C>T	NP_071765.2:p.Asp495=
XM_011542953.1:c.2457C>T	XP_011541255.1:p.Asp819=
XM_017018122.1:c.1419C>T	XP_016873611.1:p.Asp473=
NM_022370.4:c.1485C>T MANE Select	NP_071765.2:p.Asp495=