Canonical Allele Identifier: CA8623033

Gene: ITGB3

Linked Data

• ClinVar Variation Id: 695644
• ClinVar RCV Id: RCV000861463 ; RCV001124486
• dbSNP Id: rs56173532
• ExAC: 17:45363765 A / G
• gnomAD v2: 17-45363765-A-G
• gnomAD v3: 17-47286399-A-G
• gnomAD v4: 17-47286399-A-G
• MyVariant Identifiers: chr17:g.45363765A>G (hg19) ; chr17:g.47286399A>G (hg38)
• ERepo: CA8623033/MONDO:0010119/011 ; CA8623033/MONDO:0100326/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47286399A>G , CM000679.2:g.47286399A>G	GRCh38
NC_000017.10:g.45363765A>G , CM000679.1:g.45363765A>G	GRCh37
NC_000017.9:g.42718764A>G	NCBI36
NG_008332.2:g.37558A>G , LRG_481:g.37558A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696963.1:c.754A>G	ENSP00000513002.1:p.Ile252Val
ENST00000559488.7:c.754A>G MANE Select	ENSP00000452786.2:p.Ile252Val
ENST00000559488.5:c.754A>G	ENSP00000452786.1:p.Ile252Val
ENST00000560629.1:c.719A>G
ENST00000571680.1:c.754A>G	ENSP00000461626.1:p.Ile252Val
NM_000212.2:c.754A>G , LRG_481t1:c.754A>G	NP_000203.2:p.Ile252Val
NM_000212.3:c.754A>G MANE Select	NP_000203.2:p.Ile252Val