Canonical Allele Identifier: CA8641549

Gene: ITGA3

Linked Data

• ClinVar Variation Id: 518262
• ClinVar RCV Id: RCV000600838 ; RCV001653949 ; RCV001702688
• dbSNP Id: rs4793639
• ExAC: 17:48151908 T / C
• gnomAD v2: 17-48151908-T-C
• gnomAD v3: 17-50074544-T-C
• gnomAD v4: 17-50074544-T-C
• MyVariant Identifiers: chr17:g.48151908T>C (hg19) ; chr17:g.50074544T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50074544T>C , CM000679.2:g.50074544T>C	GRCh38
NC_000017.10:g.48151908T>C , CM000679.1:g.48151908T>C	GRCh37
NC_000017.9:g.45506907T>C	NCBI36
NG_029107.2:g.23569T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320031.13:c.1469+10T>C MANE Select	ENSP00000315190.8:n.1469+10T>C
ENST00000007722.11:c.1469+10T>C	ENSP00000007722.7:n.1469+10T>C
ENST00000320031.12:c.1469+10T>C	ENSP00000315190.8:n.1469+10T>C
ENST00000505306.5:n.1841+10T>C
ENST00000506401.6:c.*790+10T>C	ENSP00000422826.2:n.*790+10T>C
ENST00000510809.1:c.348+10T>C
NM_002204.2:c.1469+10T>C	NP_002195.1:n.1469+10T>C
NM_002204.3:c.1469+10T>C	NP_002195.1:n.1469+10T>C
NM_005501.2:c.1469+10T>C	NP_005492.1:n.1469+10T>C
XM_005257308.1:c.1064+10T>C	XP_005257365.1:n.1064+10T>C
XM_005257308.2:c.1064+10T>C	XP_005257365.1:n.1064+10T>C
XR_001752507.1:n.1844+10T>C
NM_002204.4:c.1469+10T>C MANE Select	NP_002195.1:n.1469+10T>C