Canonical Allele Identifier: CA8623036
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 850886
ClinVar RCV Id: RCV001055160 RCV001580245 RCV003152747
dbSNP Id: rs745766760
ExAC: 17:45363789 G / A
gnomAD v2: 17-45363789-G-A
gnomAD v3: 17-47286423-G-A
gnomAD v4: 17-47286423-G-A
MyVariant Identifiers: chr17:g.45363789G>A (hg19) chr17:g.47286423G>A (hg38)
ERepo: CA8623036/MONDO:0010119/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286423G>A , CM000679.2:g.47286423G>A GRCh38
NC_000017.10:g.45363789G>A , CM000679.1:g.45363789G>A GRCh37
NC_000017.9:g.42718788G>A NCBI36
NG_008332.2:g.37582G>A , LRG_481:g.37582G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.777+1G>A ENSP00000513002.1:n.777+1G>A
ENST00000559488.7:c.777+1G>A MANE Select ENSP00000452786.2:n.777+1G>A
ENST00000559488.5:c.777+1G>A ENSP00000452786.1:n.777+1G>A
ENST00000560629.1:c.742+1G>A
ENST00000571680.1:c.777+1G>A ENSP00000461626.1:n.777+1G>A
NM_000212.2:c.777+1G>A , LRG_481t1:c.777+1G>A NP_000203.2:n.777+1G>A
NM_000212.3:c.777+1G>A MANE Select NP_000203.2:n.777+1G>A
Search 100 bp 5'
Search 100 bp 3'