Canonical Allele Identifier: CA16043531

Gene: ITGB3

Linked Data

• ClinVar Variation Id: 374015
• ClinVar RCV Id: RCV000414924 ; RCV001197459 ; RCV003221967
• dbSNP Id: rs1057518837
• gnomAD v4: 17-47299316-C-T
• MyVariant Identifiers: chr17:g.45376682C>T (hg19) ; chr17:g.47299316C>T (hg38)
• ERepo: CA16043531/MONDO:0100326/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47299316C>T , CM000679.2:g.47299316C>T	GRCh38
NC_000017.10:g.45376682C>T , CM000679.1:g.45376682C>T	GRCh37
NC_000017.9:g.42731681C>T	NCBI36
NG_008332.2:g.50475C>T , LRG_481:g.50475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.1699C>T	ENSP00000513002.1:p.Gln567Ter
ENST00000559488.7:c.1699C>T MANE Select	ENSP00000452786.2:p.Gln567Ter
ENST00000559488.5:c.1699C>T	ENSP00000452786.1:p.Gln567Ter
ENST00000560629.1:c.1664C>T
NM_000212.2:c.1699C>T , LRG_481t1:c.1699C>T	NP_000203.2:p.Gln567Ter
NM_000212.3:c.1699C>T MANE Select	NP_000203.2:p.Gln567Ter