Canonical Allele Identifier: CA10612913

Gene: CUL3

Linked Data

• ClinVar Variation Id: 334578
• ClinVar RCV Id: RCV000318905 ; RCV001143654
• dbSNP Id: rs76433087
• gnomAD v2: 2-225335499-A-G
• gnomAD v3: 2-224470782-A-G
• gnomAD v4: 2-224470782-A-G
• MyVariant Identifiers: chr2:g.225335499A>G (hg19) ; chr2:g.224470782A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224470782A>G , CM000664.2:g.224470782A>G	GRCh38
NC_000002.11:g.225335499A>G , CM000664.1:g.225335499A>G	GRCh37
NC_000002.10:g.225043743A>G	NCBI36
NG_032169.1:g.119616T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.*3463T>C MANE Select	ENSP00000264414.4:n.*3463T>C
ENST00000264414.8:c.*3463T>C	ENSP00000264414.4:n.*3463T>C
ENST00000344951.8:c.*3463T>C	ENSP00000343601.4:n.*3463T>C
NM_001257197.1:c.*3463T>C	NP_001244126.1:n.*3463T>C
NM_001257198.1:c.*3463T>C	NP_001244127.1:n.*3463T>C
NM_003590.4:c.*3463T>C	NP_003581.1:n.*3463T>C
NM_003590.5:c.*3463T>C MANE Select	NP_003581.1:n.*3463T>C
NM_001257198.2:c.*3463T>C	NP_001244127.1:n.*3463T>C
NM_001257197.2:c.*3463T>C	NP_001244126.1:n.*3463T>C