Canonical Allele Identifier: CA123246

Gene: ITGB3 EFCAB13-DT

Linked Data

• ClinVar Variation Id: 13564
• ClinVar RCV Id: RCV001335177 ; RCV001374371 ; RCV002243644 ; RCV003128571 ; RCV000014532
• dbSNP Id: rs121918450
• ExAC: 17:45384950 C / T
• gnomAD v2: 17-45384950-C-T
• gnomAD v3: 17-47307584-C-T
• gnomAD v4: 17-47307584-C-T
• COSMIC: COSM1563792 ; COSM1563793 ; COSM3518524
• MyVariant Identifiers: chr17:g.45384950C>T (hg19) ; chr17:g.47307584C>T (hg38)
• ERepo: CA123246/MONDO:0010119/011 ; CA123246/MONDO:0100326/011
• PubMed: PMID:9351872

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47307584C>T , CM000679.2:g.47307584C>T	GRCh38
NC_000017.10:g.45384950C>T , CM000679.1:g.45384950C>T	GRCh37
NC_000017.9:g.42739949C>T	NCBI36
NG_008332.2:g.58743C>T , LRG_481:g.58743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.2248C>T (ITGB3)	ENSP00000513002.1:p.Arg750Ter
ENST00000559488.7:c.2248C>T (ITGB3) MANE Select	ENSP00000452786.2:p.Arg750Ter
ENST00000559488.5:c.2248C>T (ITGB3)	ENSP00000452786.1:p.Arg750Ter
ENST00000560629.1:c.2213C>T
NM_000212.2:c.2248C>T , LRG_481t1:c.2248C>T (ITGB3)	NP_000203.2:p.Arg750Ter
NR_110880.1:n.363-3802G>A (EFCAB13-DT)
NR_110881.1:n.227-3802G>A (EFCAB13-DT)
NM_000212.3:c.2248C>T (ITGB3) MANE Select	NP_000203.2:p.Arg750Ter