Canonical Allele Identifier: CA10614503
Gene: CUL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 334584
ClinVar RCV Id: RCV000344713 RCV001137090
dbSNP Id: rs748865811
gnomAD v2: 2-225335936-C-T
gnomAD v3: 2-224471219-C-T
gnomAD v4: 2-224471219-C-T
MyVariant Identifiers: chr2:g.225335936C>T (hg19) chr2:g.224471219C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.224471219C>T , CM000664.2:g.224471219C>T GRCh38
NC_000002.11:g.225335936C>T , CM000664.1:g.225335936C>T GRCh37
NC_000002.10:g.225044180C>T NCBI36
NG_032169.1:g.119179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264414.9:c.*3026G>A MANE Select ENSP00000264414.4:n.*3026G>A
ENST00000264414.8:c.*3026G>A ENSP00000264414.4:n.*3026G>A
ENST00000344951.8:c.*3026G>A ENSP00000343601.4:n.*3026G>A
NM_001257197.1:c.*3026G>A NP_001244126.1:n.*3026G>A
NM_001257198.1:c.*3026G>A NP_001244127.1:n.*3026G>A
NM_003590.4:c.*3026G>A NP_003581.1:n.*3026G>A
NM_003590.5:c.*3026G>A MANE Select NP_003581.1:n.*3026G>A
NM_001257198.2:c.*3026G>A NP_001244127.1:n.*3026G>A
NM_001257197.2:c.*3026G>A NP_001244126.1:n.*3026G>A
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