Canonical Allele Identifier: CA291228823
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.47307581G>A
GRCh37 chr17:g.45384947G>A
Revel Score:
ENST00000262017 0.959
ENST00000435993 0.959
gnomAD v2:
17:45384947 G / A
gnomAD v3:
17:47307581 G / A
gnomAD v4:
chr17-47307581-G-A
Joint Max Group AF 0.00000183 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV003399847
RCV003720887
ClinVar Variation:
2629410
dbSNP:
398122372
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47307581G>A , CM000679.2:g.47307581G>A GRCh38
NC_000017.10:g.45384947G>A , CM000679.1:g.45384947G>A GRCh37
NC_000017.9:g.42739946G>A NCBI36
NG_008332.2:g.58740G>A , LRG_481:g.58740G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.2245G>A (ITGB3) ENSP00000513002.1:p.Asp749Asn
ENST00000559488.7:c.2245G>A (ITGB3) MANE Select ENSP00000452786.2:p.Asp749Asn
ENST00000559488.5:c.2245G>A (ITGB3) ENSP00000452786.1:p.Asp749Asn
ENST00000560629.1:c.2210G>A
NM_000212.2:c.2245G>A , LRG_481t1:c.2245G>A (ITGB3) NP_000203.2:p.Asp749Asn
NR_110880.1:n.363-3799C>T (EFCAB13-DT)
NR_110881.1:n.227-3799C>T (EFCAB13-DT)
NM_000212.3:c.2245G>A (ITGB3) MANE Select NP_000203.2:p.Asp749Asn
Search 100 bp 5'
Search 100 bp 3'