Canonical Allele Identifier: CA350827457

Gene: CUL3

Linked Data

• ClinVar Variation Id: 2635326
• ClinVar RCV Id: RCV003393031
• dbSNP Id: rs2106197089
• gnomAD v4: 2-224503740-C-T
• MyVariant Identifiers: chr2:g.225368457C>T (hg19) ; chr2:g.224503740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503740C>T , CM000664.2:g.224503740C>T	GRCh38
NC_000002.11:g.225368457C>T , CM000664.1:g.225368457C>T	GRCh37
NC_000002.10:g.225076701C>T	NCBI36
NG_032169.1:g.86658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1289G>A MANE Select	ENSP00000264414.4:p.Arg430His
ENST00000264414.8:c.1289G>A	ENSP00000264414.4:p.Arg430His
ENST00000344951.8:c.1091G>A	ENSP00000343601.4:p.Arg364His
ENST00000409096.5:c.1217G>A	ENSP00000387200.1:p.Arg406His
ENST00000409777.5:c.1217G>A	ENSP00000386525.1:p.Arg406His
ENST00000481135.1:n.585G>A
ENST00000617432.4:c.13G>A	ENSP00000477851.1:p.Val5Ile
NM_001257197.1:c.1091G>A	NP_001244126.1:p.Arg364His
NM_001257198.1:c.1307G>A	NP_001244127.1:p.Arg436His
NM_003590.4:c.1289G>A	NP_003581.1:p.Arg430His
XM_006712800.2:c.1256G>A	XP_006712863.2:p.Arg419His
XM_011511994.1:c.1142G>A	XP_011510296.1:p.Arg381His
XM_011511995.1:c.1247G>A	XP_011510297.1:p.Arg416His
XM_011511996.1:c.1097G>A	XP_011510298.1:p.Arg366His
XM_011511997.1:c.989G>A	XP_011510299.1:p.Arg330His
XM_011511994.3:c.1142G>A	XP_011510296.1:p.Arg381His
XM_011511996.2:c.1097G>A	XP_011510298.1:p.Arg366His
NM_003590.5:c.1289G>A MANE Select	NP_003581.1:p.Arg430His
NM_001257198.2:c.1307G>A	NP_001244127.1:p.Arg436His
NM_001257197.2:c.1091G>A	NP_001244126.1:p.Arg364His