Canonical Allele Identifier: CA123249

Gene: ITGB3

Linked Data

• ClinVar Variation Id: 13565
• ClinVar RCV Id: RCV000014533 ; RCV001801834 ; RCV001851854
• dbSNP Id: rs121918451
• gnomAD v4: 17-47300488-G-T
• MyVariant Identifiers: chr17:g.45377854G>T (hg19) ; chr17:g.47300488G>T (hg38)
• ERepo: CA123249/MONDO:0100326/011
• PubMed: PMID:9845537

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47300488G>T , CM000679.2:g.47300488G>T	GRCh38
NC_000017.10:g.45377854G>T , CM000679.1:g.45377854G>T	GRCh37
NC_000017.9:g.42732853G>T	NCBI36
NG_008332.2:g.51647G>T , LRG_481:g.51647G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.1924G>T	ENSP00000513002.1:p.Glu642Ter
ENST00000559488.7:c.1924G>T MANE Select	ENSP00000452786.2:p.Glu642Ter
ENST00000559488.5:c.1924G>T	ENSP00000452786.1:p.Glu642Ter
ENST00000560629.1:c.1889G>T
NM_000212.2:c.1924G>T , LRG_481t1:c.1924G>T	NP_000203.2:p.Glu642Ter
NM_000212.3:c.1924G>T MANE Select	NP_000203.2:p.Glu642Ter