Canonical Allele Identifier: CA414195545

Gene: CUL4B

Linked Data

• ClinVar Variation Id: 434873
• ClinVar RCV Id: RCV000501059 ; RCV003335433
• dbSNP Id: rs1556200641
• MyVariant Identifiers: chrX:g.119672581G>A (hg19) ; chrX:g.120538726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120538726G>A , CM000685.2:g.120538726G>A	GRCh38
NC_000023.10:g.119672581G>A , CM000685.1:g.119672581G>A	GRCh37
NC_000023.9:g.119556609G>A	NCBI36
NG_009388.1:g.42104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336592.11:c.1801C>T	ENSP00000338919.6:p.Arg601Cys
ENST00000371322.11:c.1786C>T MANE Select	ENSP00000360373.5:p.Arg596Cys
ENST00000371323.3:c.1252C>T	ENSP00000360374.3:p.Arg418Cys
ENST00000404115.8:c.1786C>T	ENSP00000384109.4:p.Arg596Cys
ENST00000673919.1:c.*1233C>T	ENSP00000500994.1:n.*1233C>T
ENST00000674073.2:c.1230C>T
ENST00000674137.11:c.1786C>T	ENSP00000501019.6:p.Arg596Cys
ENST00000679405.1:c.*995C>T	ENSP00000504985.1:n.*995C>T
ENST00000679432.1:c.1891C>T
ENST00000679844.1:c.1125C>T
ENST00000679927.1:c.1441C>T	ENSP00000505603.1:p.Arg481Cys
ENST00000679965.1:n.366C>T
ENST00000680165.1:n.2112C>T
ENST00000680324.1:n.3194C>T
ENST00000680457.1:n.1214C>T
ENST00000680474.1:c.1230C>T
ENST00000680577.1:n.1947C>T
ENST00000680673.1:c.1840C>T	ENSP00000505084.1:p.Arg614Cys
ENST00000680918.1:c.1067C>T
ENST00000681080.1:c.1276C>T
ENST00000681090.1:c.1693C>T	ENSP00000506288.1:p.Arg565Cys
ENST00000681189.1:c.1230C>T
ENST00000681206.1:c.1900C>T	ENSP00000505480.1:p.Arg634Cys
ENST00000681253.1:c.1840C>T	ENSP00000506259.1:p.Arg614Cys
ENST00000681263.1:n.180C>T
ENST00000681333.1:c.*2229C>T	ENSP00000505739.1:n.*2229C>T
ENST00000681652.1:c.1840C>T	ENSP00000505176.1:p.Arg614Cys
ENST00000681864.1:n.3924C>T
ENST00000681869.1:c.1230C>T
ENST00000681908.1:c.1230C>T
ENST00000336592.10:c.1801C>T	ENSP00000338919.6:p.Arg601Cys
ENST00000371322.9:c.1786C>T	ENSP00000360373.5:p.Arg596Cys
ENST00000404115.7:c.1840C>T	ENSP00000384109.3:p.Arg614Cys
NM_001079872.1:c.1786C>T	NP_001073341.1:p.Arg596Cys
NM_003588.3:c.1840C>T	NP_003579.3:p.Arg614Cys
XM_005262481.1:c.1840C>T	XP_005262538.1:p.Arg614Cys
XM_006724784.1:c.1801C>T	XP_006724847.1:p.Arg601Cys
XM_006724785.1:c.1801C>T	XP_006724848.1:p.Arg601Cys
XM_011531399.1:c.1252C>T	XP_011529701.1:p.Arg418Cys
XM_011531400.1:c.1252C>T	XP_011529702.1:p.Arg418Cys
XM_011531401.1:c.1198C>T	XP_011529703.1:p.Arg400Cys
NM_001330624.1:c.1801C>T	NP_001317553.1:p.Arg601Cys
XM_011531399.2:c.1252C>T	XP_011529701.1:p.Arg418Cys
XM_011531400.2:c.1252C>T	XP_011529702.1:p.Arg418Cys
NM_001079872.2:c.1786C>T MANE Select	NP_001073341.1:p.Arg596Cys
NM_001369145.1:c.1252C>T	NP_001356074.1:p.Arg418Cys
NM_001330624.2:c.1801C>T	NP_001317553.1:p.Arg601Cys
NM_003588.4:c.1840C>T	NP_003579.3:p.Arg614Cys