Canonical Allele Identifier: CA143712
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.47307567T>C
GRCh37 chr17:g.45384933T>C
Revel Score:
ENST00000262017 0.937
ENST00000435993 0.937
ClinVar Allele:
59383
ClinVar RCV:
RCV000043482
ClinVar Variation:
50229
dbSNP:
398122374
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47307567T>C , CM000679.2:g.47307567T>C GRCh38
NC_000017.10:g.45384933T>C , CM000679.1:g.45384933T>C GRCh37
NC_000017.9:g.42739932T>C NCBI36
NG_008332.2:g.58726T>C , LRG_481:g.58726T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.2231T>C (ITGB3) ENSP00000513002.1:p.Leu744Pro
ENST00000559488.7:c.2231T>C (ITGB3) MANE Select ENSP00000452786.2:p.Leu744Pro
ENST00000559488.5:c.2231T>C (ITGB3) ENSP00000452786.1:p.Leu744Pro
ENST00000560629.1:c.2196T>C
NM_000212.2:c.2231T>C , LRG_481t1:c.2231T>C (ITGB3) NP_000203.2:p.Leu744Pro
NR_110880.1:n.363-3785A>G (EFCAB13-DT)
NR_110881.1:n.227-3785A>G (EFCAB13-DT)
NM_000212.3:c.2231T>C (ITGB3) MANE Select NP_000203.2:p.Leu744Pro
Search 100 bp 5'
Search 100 bp 3'