Canonical Allele Identifier: CA10612595

Gene: CUL3

Linked Data

• ClinVar Variation Id: 334621
• ClinVar RCV Id: RCV000333335 ; RCV001139456
• dbSNP Id: rs886055693
• gnomAD v4: 2-224473700-T-C
• MyVariant Identifiers: chr2:g.225338417T>C (hg19) ; chr2:g.224473700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224473700T>C , CM000664.2:g.224473700T>C	GRCh38
NC_000002.11:g.225338417T>C , CM000664.1:g.225338417T>C	GRCh37
NC_000002.10:g.225046661T>C	NCBI36
NG_032169.1:g.116698A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.*545A>G MANE Select	ENSP00000264414.4:n.*545A>G
ENST00000264414.8:c.*545A>G	ENSP00000264414.4:n.*545A>G
ENST00000344951.8:c.*545A>G	ENSP00000343601.4:n.*545A>G
NM_001257197.1:c.*545A>G	NP_001244126.1:n.*545A>G
NM_001257198.1:c.*545A>G	NP_001244127.1:n.*545A>G
NM_003590.4:c.*545A>G	NP_003581.1:n.*545A>G
XM_006712800.2:c.*545A>G	XP_006712863.2:n.*545A>G
XM_011511994.1:c.*545A>G	XP_011510296.1:n.*545A>G
XM_011511995.1:c.*545A>G	XP_011510297.1:n.*545A>G
XM_011511996.1:c.*545A>G	XP_011510298.1:n.*545A>G
XM_011511997.1:c.*545A>G	XP_011510299.1:n.*545A>G
XM_011511994.3:c.*545A>G	XP_011510296.1:n.*545A>G
XM_011511996.2:c.*545A>G	XP_011510298.1:n.*545A>G
NM_003590.5:c.*545A>G MANE Select	NP_003581.1:n.*545A>G
NM_001257198.2:c.*545A>G	NP_001244127.1:n.*545A>G
NM_001257197.2:c.*545A>G	NP_001244126.1:n.*545A>G