Canonical Allele Identifier: CA3813079

Gene: CUL7

Linked Data

• ClinVar Variation Id: 502470
• ClinVar RCV Id: RCV000595517 ; RCV000912859
• dbSNP Id: rs61731584
• ExAC: 6:43005609 G / A
• gnomAD v2: 6-43005609-G-A
• gnomAD v3: 6-43037871-G-A
• gnomAD v4: 6-43037871-G-A
• MyVariant Identifiers: chr6:g.43005609G>A (hg19) ; chr6:g.43037871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43037871G>A , CM000668.2:g.43037871G>A	GRCh38
NC_000006.11:g.43005609G>A , CM000668.1:g.43005609G>A	GRCh37
NC_000006.10:g.43113587G>A	NCBI36
NG_016205.1:g.21075C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478630.2:n.3134C>T
ENST00000674112.2:c.*256C>T	ENSP00000501166.2:n.*256C>T
ENST00000683242.1:n.1461C>T
ENST00000685042.1:c.*1570C>T	ENSP00000509871.1:n.*1570C>T
ENST00000686442.1:n.5792C>T
ENST00000688302.1:n.5335C>T
ENST00000689256.1:n.5491C>T
ENST00000690231.1:c.4914C>T	ENSP00000508461.1:p.Asp1638=
ENST00000692002.1:c.939C>T	ENSP00000508567.1:p.Asp313=
ENST00000265348.9:c.4914C>T MANE Select	ENSP00000265348.4:p.Asp1638=
ENST00000673725.1:c.2774C>T
ENST00000674100.1:c.5010C>T	ENSP00000501292.1:p.Asp1670=
ENST00000674112.1:c.3395C>T
ENST00000674134.1:c.5010C>T	ENSP00000501068.1:p.Asp1670=
ENST00000265348.7:c.4914C>T	ENSP00000265348.3:p.Asp1638=
ENST00000535468.1:c.5166C>T	ENSP00000438788.1:p.Asp1722=
NM_001168370.1:c.5166C>T	NP_001161842.1:p.Asp1722=
NM_014780.4:c.4914C>T	NP_055595.2:p.Asp1638=
XM_005249503.1:c.5070C>T	XP_005249560.1:p.Asp1690=
XM_006715285.1:c.5022C>T	XP_006715348.1:p.Asp1674=
XM_011515019.1:c.5178C>T	XP_011513321.1:p.Asp1726=
XM_011515020.1:c.5082C>T	XP_011513322.1:p.Asp1694=
XM_011515021.1:c.2787C>T	XP_011513323.1:p.Asp929=
XM_005249503.3:c.5070C>T	XP_005249560.1:p.Asp1690=
XM_006715285.2:c.5022C>T	XP_006715348.1:p.Asp1674=
XM_011515019.2:c.5178C>T	XP_011513321.1:p.Asp1726=
XM_011515020.2:c.5082C>T	XP_011513322.1:p.Asp1694=
XM_017011533.1:c.5205C>T	XP_016867022.1:p.Asp1735=
XM_017011534.1:c.5193C>T	XP_016867023.1:p.Asp1731=
XM_017011535.1:c.5109C>T	XP_016867024.1:p.Asp1703=
XM_017011536.2:c.5049C>T	XP_016867025.1:p.Asp1683=
XM_017011537.2:c.5010C>T	XP_016867026.1:p.Asp1670=
XM_017011538.2:c.4953C>T	XP_016867027.1:p.Asp1651=
XM_017011539.2:c.4926C>T	XP_016867028.1:p.Asp1642=
NM_001168370.2:c.5010C>T	NP_001161842.2:p.Asp1670=
NM_001374872.1:c.5010C>T	NP_001361801.1:p.Asp1670=
NM_001374873.1:c.4926C>T	NP_001361802.1:p.Asp1642=
NM_001374874.1:c.4911C>T	NP_001361803.1:p.Asp1637=
NM_014780.5:c.4914C>T MANE Select	NP_055595.2:p.Asp1638=