Canonical Allele Identifier: CA209494

Gene: CRBN

Linked Data

• ClinVar Variation Id: 210763
• ClinVar RCV Id: RCV000194970 ; RCV000921829
• dbSNP Id: rs373145132
• ExAC: 3:3209351 T / C
• gnomAD v2: 3-3209351-T-C
• gnomAD v3: 3-3167667-T-C
• gnomAD v4: 3-3167667-T-C
• MyVariant Identifiers: chr3:g.3209351T>C (hg19) ; chr3:g.3167667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.3167667T>C , CM000665.2:g.3167667T>C	GRCh38
NC_000003.11:g.3209351T>C , CM000665.1:g.3209351T>C	GRCh37
NC_000003.10:g.3184351T>C	NCBI36
NG_016864.1:g.17051A>G
NG_016864.2:g.17051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231948.9:c.654A>G MANE Select	ENSP00000231948.4:p.Gln218=
ENST00000639284.1:c.654A>G	ENSP00000491442.1:p.Gln218=
ENST00000231948.8:c.654A>G	ENSP00000231948.4:p.Gln218=
ENST00000424814.5:c.641A>G
ENST00000432408.6:c.651A>G	ENSP00000412499.2:p.Gln217=
ENST00000450014.1:c.641A>G
ENST00000480249.5:n.340A>G
ENST00000482844.5:n.275A>G
ENST00000491834.5:n.551A>G
NM_001173482.1:c.651A>G	NP_001166953.1:p.Gln217=
NM_016302.3:c.654A>G	NP_057386.2:p.Gln218=
XM_005265202.2:c.465A>G	XP_005265259.1:p.Gln155=
XM_011533791.1:c.654A>G	XP_011532093.1:p.Gln218=
XM_011533792.1:c.654A>G	XP_011532094.1:p.Gln218=
XM_011533793.1:c.162A>G	XP_011532095.1:p.Gln54=
XM_011533794.1:c.162A>G	XP_011532096.1:p.Gln54=
XR_940448.1:n.671A>G
XM_005265202.4:c.465A>G	XP_005265259.1:p.Gln155=
XM_011533791.3:c.654A>G	XP_011532093.1:p.Gln218=
XM_011533793.2:c.162A>G	XP_011532095.1:p.Gln54=
XM_011533794.2:c.162A>G	XP_011532096.1:p.Gln54=
XM_024453551.1:c.654A>G	XP_024309319.1:p.Gln218=
XR_940448.3:n.668A>G
NM_016302.4:c.654A>G MANE Select	NP_057386.2:p.Gln218=