Canonical Allele Identifier: CA350827617

Gene: CUL3

Linked Data

• dbSNP Id: rs1287753488
• gnomAD v2: 2-225368497-C-T
• gnomAD v4: 2-224503780-C-T
• MyVariant Identifiers: chr2:g.225368497C>T (hg19) ; chr2:g.224503780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503780C>T , CM000664.2:g.224503780C>T	GRCh38
NC_000002.11:g.225368497C>T , CM000664.1:g.225368497C>T	GRCh37
NC_000002.10:g.225076741C>T	NCBI36
NG_032169.1:g.86618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1249G>A MANE Select	ENSP00000264414.4:p.Val417Ile
ENST00000264414.8:c.1249G>A	ENSP00000264414.4:p.Val417Ile
ENST00000344951.8:c.1051G>A	ENSP00000343601.4:p.Val351Ile
ENST00000409096.5:c.1177G>A	ENSP00000387200.1:p.Val393Ile
ENST00000409777.5:c.1177G>A	ENSP00000386525.1:p.Val393Ile
ENST00000481135.1:n.545G>A
ENST00000617432.4:c.-28G>A	ENSP00000477851.1:n.-28G>A
NM_001257197.1:c.1051G>A	NP_001244126.1:p.Val351Ile
NM_001257198.1:c.1267G>A	NP_001244127.1:p.Val423Ile
NM_003590.4:c.1249G>A	NP_003581.1:p.Val417Ile
XM_006712800.2:c.1216G>A	XP_006712863.2:p.Val406Ile
XM_011511994.1:c.1102G>A	XP_011510296.1:p.Val368Ile
XM_011511995.1:c.1207G>A	XP_011510297.1:p.Val403Ile
XM_011511996.1:c.1057G>A	XP_011510298.1:p.Val353Ile
XM_011511997.1:c.949G>A	XP_011510299.1:p.Val317Ile
XM_011511994.3:c.1102G>A	XP_011510296.1:p.Val368Ile
XM_011511996.2:c.1057G>A	XP_011510298.1:p.Val353Ile
NM_003590.5:c.1249G>A MANE Select	NP_003581.1:p.Val417Ile
NM_001257198.2:c.1267G>A	NP_001244127.1:p.Val423Ile
NM_001257197.2:c.1051G>A	NP_001244126.1:p.Val351Ile