Canonical Allele Identifier: CA10650407
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.47310917A>G
GRCh37 chr17:g.45388283A>G
gnomAD v2:
17:45388283 A / G
gnomAD v3:
17:47310917 A / G
gnomAD v4:
chr17-47310917-A-G
Joint Max Group AF 0.17638496 (EAS)
Genomes Max Group AF 0.17898318 (EAS)
Exomes Max Group AF 0.05607121 (SAS)
ClinVar RCV:
RCV000310133
ClinVar Variation:
323887
dbSNP:
2317676
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310917A>G , CM000679.2:g.47310917A>G GRCh38
NC_000017.10:g.45388283A>G , CM000679.1:g.45388283A>G GRCh37
NC_000017.9:g.42743282A>G NCBI36
NG_008332.2:g.62076A>G , LRG_481:g.62076A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559488.7:c.*713A>G (ITGB3) MANE Select ENSP00000452786.2:n.*713A>G
ENST00000559488.5:c.*713A>G (ITGB3) ENSP00000452786.1:n.*713A>G
ENST00000560629.1:c.2266+3280A>G
NM_000212.2:c.*713A>G , LRG_481t1:c.*713A>G (ITGB3) NP_000203.2:n.*713A>G
NR_110880.1:n.363-7135T>C (EFCAB13-DT)
NR_110881.1:n.227-7135T>C (EFCAB13-DT)
NM_000212.3:c.*713A>G (ITGB3) MANE Select NP_000203.2:n.*713A>G
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