Canonical Allele Identifier: CA214662

Gene: CUL4B

Linked Data

• ClinVar Variation Id: 11339
• ClinVar RCV Id: RCV000012092 ; RCV000415116 ; RCV003325302
• dbSNP Id: rs121434616
• MyVariant Identifiers: chrX:g.119678034G>A (hg19) ; chrX:g.120544179G>A (hg38)
• PubMed: PMID:8135271 ; PMID:17236139 ; PMID:17273978

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120544179G>A , CM000685.2:g.120544179G>A	GRCh38
NC_000023.10:g.119678034G>A , CM000685.1:g.119678034G>A	GRCh37
NC_000023.9:g.119562062G>A	NCBI36
NG_009388.1:g.36651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336592.11:c.1123C>T	ENSP00000338919.6:p.Arg375Ter
ENST00000371322.11:c.1108C>T MANE Select	ENSP00000360373.5:p.Arg370Ter
ENST00000371323.3:c.574C>T	ENSP00000360374.3:p.Arg192Ter
ENST00000404115.8:c.1108C>T	ENSP00000384109.4:p.Arg370Ter
ENST00000673919.1:c.*555C>T	ENSP00000500994.1:n.*555C>T
ENST00000674073.2:c.552C>T
ENST00000674137.11:c.1108C>T	ENSP00000501019.6:p.Arg370Ter
ENST00000679405.1:c.*317C>T	ENSP00000504985.1:n.*317C>T
ENST00000679432.1:c.1213C>T
ENST00000679844.1:c.552C>T
ENST00000679927.1:c.763C>T	ENSP00000505603.1:p.Arg255Ter
ENST00000680165.1:n.1434C>T
ENST00000680324.1:n.1022C>T
ENST00000680457.1:n.536C>T
ENST00000680474.1:c.552C>T
ENST00000680577.1:n.1269C>T
ENST00000680673.1:c.1162C>T	ENSP00000505084.1:p.Arg388Ter
ENST00000680918.1:c.389C>T
ENST00000681080.1:c.598C>T
ENST00000681090.1:c.1015C>T	ENSP00000506288.1:p.Arg339Ter
ENST00000681189.1:c.552C>T
ENST00000681206.1:c.1222C>T	ENSP00000505480.1:p.Arg408Ter
ENST00000681224.1:n.388C>T
ENST00000681253.1:c.1162C>T	ENSP00000506259.1:p.Arg388Ter
ENST00000681333.1:c.1108C>T	ENSP00000505739.1:p.Arg370Ter
ENST00000681652.1:c.1162C>T	ENSP00000505176.1:p.Arg388Ter
ENST00000681864.1:n.1752C>T
ENST00000681869.1:c.552C>T
ENST00000681908.1:c.552C>T
ENST00000336592.10:c.1123C>T	ENSP00000338919.6:p.Arg375Ter
ENST00000371322.9:c.1108C>T	ENSP00000360373.5:p.Arg370Ter
ENST00000371323.2:c.574C>T	ENSP00000360374.2:p.Arg192Ter
ENST00000404115.7:c.1162C>T	ENSP00000384109.3:p.Arg388Ter
NM_001079872.1:c.1108C>T	NP_001073341.1:p.Arg370Ter
NM_003588.3:c.1162C>T	NP_003579.3:p.Arg388Ter
XM_005262481.1:c.1162C>T	XP_005262538.1:p.Arg388Ter
XM_006724784.1:c.1123C>T	XP_006724847.1:p.Arg375Ter
XM_006724785.1:c.1123C>T	XP_006724848.1:p.Arg375Ter
XM_011531399.1:c.574C>T	XP_011529701.1:p.Arg192Ter
XM_011531400.1:c.574C>T	XP_011529702.1:p.Arg192Ter
XM_011531401.1:c.520C>T	XP_011529703.1:p.Arg174Ter
NM_001330624.1:c.1123C>T	NP_001317553.1:p.Arg375Ter
XM_011531399.2:c.574C>T	XP_011529701.1:p.Arg192Ter
XM_011531400.2:c.574C>T	XP_011529702.1:p.Arg192Ter
NM_001079872.2:c.1108C>T MANE Select	NP_001073341.1:p.Arg370Ter
NM_001369145.1:c.574C>T	NP_001356074.1:p.Arg192Ter
NM_001330624.2:c.1123C>T	NP_001317553.1:p.Arg375Ter
NM_003588.4:c.1162C>T	NP_003579.3:p.Arg388Ter