Canonical Allele Identifier: CA291229217

Gene: ITGB3 EFCAB13-DT

Linked Data

• dbSNP Id: rs562095728
• gnomAD v3: 17-47310084-G-C
• gnomAD v4: 17-47310084-G-C
• MyVariant Identifiers: chr17:g.45387450G>C (hg19) ; chr17:g.47310084G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47310084G>C , CM000679.2:g.47310084G>C	GRCh38
NC_000017.10:g.45387450G>C , CM000679.1:g.45387450G>C	GRCh37
NC_000017.9:g.42742449G>C	NCBI36
NG_008332.2:g.61243G>C , LRG_481:g.61243G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559488.7:c.2302-55G>C (ITGB3) MANE Select	ENSP00000452786.2:n.2302-55G>C
ENST00000559488.5:c.2302-55G>C (ITGB3)	ENSP00000452786.1:n.2302-55G>C
ENST00000560629.1:c.2266+2447G>C
NM_000212.2:c.2302-55G>C , LRG_481t1:c.2302-55G>C (ITGB3)	NP_000203.2:n.2302-55G>C
NR_110880.1:n.363-6302C>G (EFCAB13-DT)
NR_110881.1:n.227-6302C>G (EFCAB13-DT)
NM_000212.3:c.2302-55G>C (ITGB3) MANE Select	NP_000203.2:n.2302-55G>C