Canonical Allele Identifier: CA208551

Gene: CRBN

Linked Data

• ClinVar Variation Id: 210765
• ClinVar RCV Id: RCV000194403 ; RCV001252199
• dbSNP Id: rs142337178
• ExAC: 3:3195658 C / G
• gnomAD v2: 3-3195658-C-G
• gnomAD v3: 3-3153974-C-G
• gnomAD v4: 3-3153974-C-G
• MyVariant Identifiers: chr3:g.3195658C>G (hg19) ; chr3:g.3153974C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.3153974C>G , CM000665.2:g.3153974C>G	GRCh38
NC_000003.11:g.3195658C>G , CM000665.1:g.3195658C>G	GRCh37
NC_000003.10:g.3170658C>G	NCBI36
NG_016864.1:g.30744G>C
NG_041800.2:g.32059C>G
NG_016864.2:g.30744G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231948.9:c.937G>C MANE Select	ENSP00000231948.4:p.Asp313His
ENST00000639284.1:c.937G>C	ENSP00000491442.1:p.Asp313His
ENST00000231948.8:c.937G>C	ENSP00000231948.4:p.Asp313His
ENST00000424814.5:c.924G>C
ENST00000432408.6:c.934G>C	ENSP00000412499.2:p.Asp312His
ENST00000459840.5:n.326G>C
ENST00000488263.5:n.2811G>C
ENST00000491834.5:n.2892G>C
ENST00000498442.1:n.219G>C
NM_001173482.1:c.934G>C	NP_001166953.1:p.Asp312His
NM_016302.3:c.937G>C	NP_057386.2:p.Asp313His
XM_005265202.2:c.748G>C	XP_005265259.1:p.Asp250His
XM_011533791.1:c.937G>C	XP_011532093.1:p.Asp313His
XM_011533792.1:c.836-486G>C	XP_011532094.1:n.836-486G>C
XM_011533793.1:c.445G>C	XP_011532095.1:p.Asp149His
XM_011533794.1:c.445G>C	XP_011532096.1:p.Asp149His
XR_940448.1:n.853-486G>C
XM_005265202.4:c.748G>C	XP_005265259.1:p.Asp250His
XM_011533791.3:c.937G>C	XP_011532093.1:p.Asp313His
XM_011533793.2:c.445G>C	XP_011532095.1:p.Asp149His
XM_011533794.2:c.445G>C	XP_011532096.1:p.Asp149His
XM_024453551.1:c.836-486G>C	XP_024309319.1:n.836-486G>C
XR_940448.3:n.850-486G>C
NM_016302.4:c.937G>C MANE Select	NP_057386.2:p.Asp313His