Canonical Allele Identifier: CA772534020
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

dbSNP Id: rs1370408691
gnomAD v3: 17-47310060-C-G
gnomAD v4: 17-47310060-C-G
MyVariant Identifiers: chr17:g.45387426C>G (hg19) chr17:g.47310060C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310060C>G , CM000679.2:g.47310060C>G GRCh38
NC_000017.10:g.45387426C>G , CM000679.1:g.45387426C>G GRCh37
NC_000017.9:g.42742425C>G NCBI36
NG_008332.2:g.61219C>G , LRG_481:g.61219C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559488.7:c.2302-79C>G (ITGB3) MANE Select ENSP00000452786.2:n.2302-79C>G
ENST00000559488.5:c.2302-79C>G (ITGB3) ENSP00000452786.1:n.2302-79C>G
ENST00000560629.1:c.2266+2423C>G
NM_000212.2:c.2302-79C>G , LRG_481t1:c.2302-79C>G (ITGB3) NP_000203.2:n.2302-79C>G
NR_110880.1:n.363-6278G>C (EFCAB13-DT)
NR_110881.1:n.227-6278G>C (EFCAB13-DT)
NM_000212.3:c.2302-79C>G (ITGB3) MANE Select NP_000203.2:n.2302-79C>G
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