Canonical Allele Identifier: CA10612931
Gene: CUL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 334610
ClinVar RCV Id: RCV000359242 RCV001137203
dbSNP Id: rs13016316
gnomAD v2: 2-225337188-C-A
gnomAD v3: 2-224472471-C-A
gnomAD v4: 2-224472471-C-A
MyVariant Identifiers: chr2:g.225337188C>A (hg19) chr2:g.224472471C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.224472471C>A , CM000664.2:g.224472471C>A GRCh38
NC_000002.11:g.225337188C>A , CM000664.1:g.225337188C>A GRCh37
NC_000002.10:g.225045432C>A NCBI36
NG_032169.1:g.117927G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264414.9:c.*1774G>T MANE Select ENSP00000264414.4:n.*1774G>T
ENST00000264414.8:c.*1774G>T ENSP00000264414.4:n.*1774G>T
ENST00000344951.8:c.*1774G>T ENSP00000343601.4:n.*1774G>T
NM_001257197.1:c.*1774G>T NP_001244126.1:n.*1774G>T
NM_001257198.1:c.*1774G>T NP_001244127.1:n.*1774G>T
NM_003590.4:c.*1774G>T NP_003581.1:n.*1774G>T
NM_003590.5:c.*1774G>T MANE Select NP_003581.1:n.*1774G>T
NM_001257198.2:c.*1774G>T NP_001244127.1:n.*1774G>T
NM_001257197.2:c.*1774G>T NP_001244126.1:n.*1774G>T
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