Canonical Allele Identifier: CA350827614

Gene: CUL3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1249G>T MANE Select	ENSP00000264414.4:p.Val417Phe
ENST00000264414.8:c.1249G>T	ENSP00000264414.4:p.Val417Phe
ENST00000344951.8:c.1051G>T	ENSP00000343601.4:p.Val351Phe
ENST00000409096.5:c.1177G>T	ENSP00000387200.1:p.Val393Phe
ENST00000409777.5:c.1177G>T	ENSP00000386525.1:p.Val393Phe
ENST00000481135.1:n.545G>T
ENST00000617432.4:c.-28G>T	ENSP00000477851.1:n.-28G>T
NM_001257197.1:c.1051G>T	NP_001244126.1:p.Val351Phe
NM_001257198.1:c.1267G>T	NP_001244127.1:p.Val423Phe
NM_003590.4:c.1249G>T	NP_003581.1:p.Val417Phe
XM_006712800.2:c.1216G>T	XP_006712863.2:p.Val406Phe
XM_011511994.1:c.1102G>T	XP_011510296.1:p.Val368Phe
XM_011511995.1:c.1207G>T	XP_011510297.1:p.Val403Phe
XM_011511996.1:c.1057G>T	XP_011510298.1:p.Val353Phe
XM_011511997.1:c.949G>T	XP_011510299.1:p.Val317Phe
XM_011511994.3:c.1102G>T	XP_011510296.1:p.Val368Phe
XM_011511996.2:c.1057G>T	XP_011510298.1:p.Val353Phe
NM_003590.5:c.1249G>T MANE Select	NP_003581.1:p.Val417Phe
NM_001257198.2:c.1267G>T	NP_001244127.1:p.Val423Phe
NM_001257197.2:c.1051G>T	NP_001244126.1:p.Val351Phe