Canonical Allele Identifier: CA10650408
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.47311220T>A
GRCh37 chr17:g.45388586T>A
gnomAD v2:
17:45388586 T / A
gnomAD v3:
17:47311220 T / A
gnomAD v4:
chr17-47311220-T-A
Joint Max Group AF 0.7853243 (EAS)
Genomes Max Group AF 0.78689395 (EAS)
Exomes Max Group AF 0.68717695 (EAS)
ClinVar RCV:
RCV000370303
RCV001534995
ClinVar Variation:
323891
dbSNP:
3809865
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47311220T>A , CM000679.2:g.47311220T>A GRCh38
NC_000017.10:g.45388586T>A , CM000679.1:g.45388586T>A GRCh37
NC_000017.9:g.42743585T>A NCBI36
NG_008332.2:g.62379T>A , LRG_481:g.62379T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559488.7:c.*1016T>A (ITGB3) MANE Select ENSP00000452786.2:n.*1016T>A
ENST00000559488.5:c.*1016T>A (ITGB3) ENSP00000452786.1:n.*1016T>A
ENST00000560629.1:c.2266+3583T>A
NM_000212.2:c.*1016T>A , LRG_481t1:c.*1016T>A (ITGB3) NP_000203.2:n.*1016T>A
NR_110880.1:n.362+7252A>T (EFCAB13-DT)
NR_110881.1:n.226+7252A>T (EFCAB13-DT)
NM_000212.3:c.*1016T>A (ITGB3) MANE Select NP_000203.2:n.*1016T>A
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