Canonical Allele Identifier: CA358848

Gene: CUL4B

Linked Data

• ClinVar Variation Id: 208797
• ClinVar RCV Id: RCV000190825
• dbSNP Id: rs869320682
• gnomAD v3: X-120560544-G-A
• gnomAD v4: X-120560544-G-A
• MyVariant Identifiers: chrX:g.119694399G>A (hg19) ; chrX:g.120560544G>A (hg38)
• PubMed: PMID:25385192

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120560544G>A , CM000685.2:g.120560544G>A	GRCh38
NC_000023.10:g.119694399G>A , CM000685.1:g.119694399G>A	GRCh37
NC_000023.9:g.119578427G>A	NCBI36
NG_009388.1:g.20286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336592.11:c.110C>T	ENSP00000338919.6:p.Pro37Leu
ENST00000371322.11:c.95C>T MANE Select	ENSP00000360373.5:p.Pro32Leu
ENST00000404115.8:c.95C>T	ENSP00000384109.4:p.Pro32Leu
ENST00000673919.1:c.95C>T	ENSP00000500994.1:p.Pro32Leu
ENST00000674137.11:c.95C>T	ENSP00000501019.6:p.Pro32Leu
ENST00000679432.1:c.82C>T
ENST00000679927.1:c.-251C>T	ENSP00000505603.1:n.-251C>T
ENST00000680165.1:n.421C>T
ENST00000680324.1:n.9C>T
ENST00000680577.1:n.256C>T
ENST00000680673.1:c.149C>T	ENSP00000505084.1:p.Pro50Leu
ENST00000681090.1:c.95C>T	ENSP00000506288.1:p.Pro32Leu
ENST00000681206.1:c.110C>T	ENSP00000505480.1:p.Pro37Leu
ENST00000681253.1:c.149C>T	ENSP00000506259.1:p.Pro50Leu
ENST00000681333.1:c.95C>T	ENSP00000505739.1:p.Pro32Leu
ENST00000681652.1:c.149C>T	ENSP00000505176.1:p.Pro50Leu
ENST00000336592.10:c.110C>T	ENSP00000338919.6:p.Pro37Leu
ENST00000371322.9:c.95C>T	ENSP00000360373.5:p.Pro32Leu
ENST00000404115.7:c.149C>T	ENSP00000384109.3:p.Pro50Leu
ENST00000467641.1:n.252C>T
NM_001079872.1:c.95C>T	NP_001073341.1:p.Pro32Leu
NM_003588.3:c.149C>T	NP_003579.3:p.Pro50Leu
XM_005262481.1:c.149C>T	XP_005262538.1:p.Pro50Leu
XM_006724784.1:c.110C>T	XP_006724847.1:p.Pro37Leu
XM_006724785.1:c.110C>T	XP_006724848.1:p.Pro37Leu
NM_001330624.1:c.110C>T	NP_001317553.1:p.Pro37Leu
NM_001079872.2:c.95C>T MANE Select	NP_001073341.1:p.Pro32Leu
NM_001330624.2:c.110C>T	NP_001317553.1:p.Pro37Leu
NM_003588.4:c.149C>T	NP_003579.3:p.Pro50Leu