Canonical Allele Identifier: CA6343861

Gene: ROBO3

Linked Data

• ClinVar Variation Id: 303256
• ClinVar RCV Id: RCV000315230 ; RCV000951122 ; RCV003910111
• dbSNP Id: rs199932669
• ExAC: 11:124746198 T / A
• gnomAD v2: 11-124746198-T-A
• gnomAD v3: 11-124876302-T-A
• gnomAD v4: 11-124876302-T-A
• MyVariant Identifiers: chr11:g.124746198T>A (hg19) ; chr11:g.124876302T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124876302T>A , CM000673.2:g.124876302T>A	GRCh38
NC_000011.9:g.124746198T>A , CM000673.1:g.124746198T>A	GRCh37
NC_000011.8:g.124251408T>A	NCBI36
NG_016214.1:g.15894T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397801.6:c.2621T>A MANE Select	ENSP00000380903.1:p.Leu874Gln
ENST00000397801.5:c.2621T>A	ENSP00000380903.1:p.Leu874Gln
ENST00000527196.5:n.182T>A
ENST00000538940.5:c.2555T>A	ENSP00000441797.1:p.Leu852Gln
NM_022370.3:c.2621T>A	NP_071765.2:p.Leu874Gln
XM_011542953.1:c.3593T>A	XP_011541255.1:p.Leu1198Gln
XM_017018122.1:c.2555T>A	XP_016873611.1:p.Leu852Gln
NM_022370.4:c.2621T>A MANE Select	NP_071765.2:p.Leu874Gln
NM_001370356.1:c.-233T>A	NP_001357285.1:n.-233T>A
NR_163409.1:n.121T>A