Canonical Allele Identifier: CA269958

Gene: CUL3

Linked Data

• ClinVar Variation Id: 100519
• ClinVar RCV Id: RCV000023256 ; RCV000128490
• dbSNP Id: rs199469653
• gnomAD v4: 2-224503825-G-A
• MyVariant Identifiers: chr2:g.225368542G>A (hg19) ; chr2:g.224503825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503825G>A , CM000664.2:g.224503825G>A	GRCh38
NC_000002.11:g.225368542G>A , CM000664.1:g.225368542G>A	GRCh37
NC_000002.10:g.225076786G>A	NCBI36
NG_032169.1:g.86573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1207-3C>T MANE Select	ENSP00000264414.4:n.1207-3C>T
ENST00000264414.8:c.1207-3C>T	ENSP00000264414.4:n.1207-3C>T
ENST00000344951.8:c.1009-3C>T	ENSP00000343601.4:n.1009-3C>T
ENST00000409096.5:c.1135-3C>T	ENSP00000387200.1:n.1135-3C>T
ENST00000409777.5:c.1135-3C>T	ENSP00000386525.1:n.1135-3C>T
ENST00000481135.1:n.500C>T
ENST00000617432.4:c.-70-3C>T	ENSP00000477851.1:n.-70-3C>T
NM_001257197.1:c.1009-3C>T	NP_001244126.1:n.1009-3C>T
NM_001257198.1:c.1225-3C>T	NP_001244127.1:n.1225-3C>T
NM_003590.4:c.1207-3C>T	NP_003581.1:n.1207-3C>T
XM_006712800.2:c.1174-3C>T	XP_006712863.2:n.1174-3C>T
XM_011511994.1:c.1060-3C>T	XP_011510296.1:n.1060-3C>T
XM_011511995.1:c.1165-3C>T	XP_011510297.1:n.1165-3C>T
XM_011511996.1:c.1015-3C>T	XP_011510298.1:n.1015-3C>T
XM_011511997.1:c.907-3C>T	XP_011510299.1:n.907-3C>T
XM_011511994.3:c.1060-3C>T	XP_011510296.1:n.1060-3C>T
XM_011511996.2:c.1015-3C>T	XP_011510298.1:n.1015-3C>T
NM_003590.5:c.1207-3C>T MANE Select	NP_003581.1:n.1207-3C>T
NM_001257198.2:c.1225-3C>T	NP_001244127.1:n.1225-3C>T
NM_001257197.2:c.1009-3C>T	NP_001244126.1:n.1009-3C>T