Canonical Allele Identifier: CA400034866
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 996183
ClinVar RCV Id: RCV001290477
dbSNP Id: rs1377491769
gnomAD v2: 17-45387559-C-T
gnomAD v3: 17-47310193-C-T
gnomAD v4: 17-47310193-C-T
MyVariant Identifiers: chr17:g.45387559C>T (hg19) chr17:g.47310193C>T (hg38)
ERepo: CA400034866/MONDO:0010119/011 CA400034866/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310193C>T , CM000679.2:g.47310193C>T GRCh38
NC_000017.10:g.45387559C>T , CM000679.1:g.45387559C>T GRCh37
NC_000017.9:g.42742558C>T NCBI36
NG_008332.2:g.61352C>T , LRG_481:g.61352C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559488.7:c.2356C>T (ITGB3) MANE Select ENSP00000452786.2:p.Arg786Trp
ENST00000559488.5:c.2356C>T (ITGB3) ENSP00000452786.1:p.Arg786Trp
ENST00000560629.1:c.2266+2556C>T
NM_000212.2:c.2356C>T , LRG_481t1:c.2356C>T (ITGB3) NP_000203.2:p.Arg786Trp
NR_110880.1:n.363-6411G>A (EFCAB13-DT)
NR_110881.1:n.227-6411G>A (EFCAB13-DT)
NM_000212.3:c.2356C>T (ITGB3) MANE Select NP_000203.2:p.Arg786Trp
Search 100 bp 5'
Search 100 bp 3'