Canonical Allele Identifier: CA400023448

Gene: ITGB3

Linked Data

• gnomAD v4: 17-47286298-A-G
• MyVariant Identifiers: chr17:g.45363664A>G (hg19) ; chr17:g.47286298A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47286298A>G , CM000679.2:g.47286298A>G	GRCh38
NC_000017.10:g.45363664A>G , CM000679.1:g.45363664A>G	GRCh37
NC_000017.9:g.42718663A>G	NCBI36
NG_008332.2:g.37457A>G , LRG_481:g.37457A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.653A>G	ENSP00000513002.1:p.His218Arg
ENST00000559488.7:c.653A>G MANE Select	ENSP00000452786.2:p.His218Arg
ENST00000559488.5:c.653A>G	ENSP00000452786.1:p.His218Arg
ENST00000560629.1:c.618A>G
ENST00000571680.1:c.653A>G	ENSP00000461626.1:p.His218Arg
NM_000212.2:c.653A>G , LRG_481t1:c.653A>G	NP_000203.2:p.His218Arg
NM_000212.3:c.653A>G MANE Select	NP_000203.2:p.His218Arg