Canonical Allele Identifier: CA8622881
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330326
ClinVar RCV Id: RCV001803419 RCV003574886
dbSNP Id: rs749373796
ExAC: 17:45360706 C / A
gnomAD v2: 17-45360706-C-A
gnomAD v4: 17-47283340-C-A
MyVariant Identifiers: chr17:g.45360706C>A (hg19) chr17:g.47283340C>A (hg38)
ERepo: CA8622881/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47283340C>A , CM000679.2:g.47283340C>A GRCh38
NC_000017.10:g.45360706C>A , CM000679.1:g.45360706C>A GRCh37
NC_000017.9:g.42715705C>A NCBI36
NG_008332.2:g.34499C>A , LRG_481:g.34499C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.166-14C>A ENSP00000513002.1:n.166-14C>A
ENST00000559488.7:c.166-14C>A MANE Select ENSP00000452786.2:n.166-14C>A
ENST00000559488.5:c.166-14C>A ENSP00000452786.1:n.166-14C>A
ENST00000560629.1:c.131-14C>A
ENST00000571680.1:c.166-14C>A ENSP00000461626.1:n.166-14C>A
NM_000212.2:c.166-14C>A , LRG_481t1:c.166-14C>A NP_000203.2:n.166-14C>A
NM_000212.3:c.166-14C>A MANE Select NP_000203.2:n.166-14C>A
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