Canonical Allele Identifier: CA3813496

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 356829
• ClinVar RCV Id: RCV000323508 ; RCV000899777
• dbSNP Id: rs77965460
• ExAC: 6:43010858 A / G
• gnomAD v2: 6-43010858-A-G
• gnomAD v3: 6-43043120-A-G
• gnomAD v4: 6-43043120-A-G
• COSMIC: COSM249271
• MyVariant Identifiers: chr6:g.43010858A>G (hg19) ; chr6:g.43043120A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43043120A>G , CM000668.2:g.43043120A>G	GRCh38
NC_000006.11:g.43010858A>G , CM000668.1:g.43010858A>G	GRCh37
NC_000006.10:g.43118836A>G	NCBI36
NG_016205.1:g.15826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1487T>C (CUL7)
ENST00000674112.2:c.3416T>C (CUL7)	ENSP00000501166.2:p.Ile1139Thr
ENST00000685042.1:c.*72T>C (CUL7)	ENSP00000509871.1:n.*72T>C
ENST00000686442.1:n.3977T>C (CUL7)
ENST00000687225.1:c.*1713T>C (CUL7)	ENSP00000509364.1:n.*1713T>C
ENST00000688302.1:n.3699T>C (CUL7)
ENST00000689256.1:n.3993T>C (CUL7)
ENST00000690231.1:c.3416T>C (CUL7)	ENSP00000508461.1:p.Ile1139Thr
ENST00000265348.9:c.3416T>C (CUL7) MANE Select	ENSP00000265348.4:p.Ile1139Thr
ENST00000673725.1:c.1365T>C (CUL7)
ENST00000673753.1:n.4255T>C (CUL7)
ENST00000674100.1:c.3512T>C (CUL7)	ENSP00000501292.1:p.Ile1171Thr
ENST00000674112.1:c.1908T>C (CUL7)
ENST00000674134.1:c.3512T>C (CUL7)	ENSP00000501068.1:p.Ile1171Thr
ENST00000265348.7:c.3416T>C (CUL7)	ENSP00000265348.3:p.Ile1139Thr
ENST00000467906.5:c.-941A>G (KLC4)	ENSP00000418759.1:n.-941A>G
ENST00000535468.1:c.3668T>C (CUL7)	ENSP00000438788.1:p.Ile1223Thr
NM_001168370.1:c.3668T>C (CUL7)	NP_001161842.1:p.Ile1223Thr
NM_014780.4:c.3416T>C (CUL7)	NP_055595.2:p.Ile1139Thr
XM_005249503.1:c.3572T>C (CUL7)	XP_005249560.1:p.Ile1191Thr
XM_006715285.1:c.3512T>C (CUL7)	XP_006715348.1:p.Ile1171Thr
XM_011515019.1:c.3668T>C (CUL7)	XP_011513321.1:p.Ile1223Thr
XM_011515020.1:c.3572T>C (CUL7)	XP_011513322.1:p.Ile1191Thr
XM_011515021.1:c.1277T>C (CUL7)	XP_011513323.1:p.Ile426Thr
XM_005249503.3:c.3572T>C (CUL7)	XP_005249560.1:p.Ile1191Thr
XM_006715285.2:c.3512T>C (CUL7)	XP_006715348.1:p.Ile1171Thr
XM_011515019.2:c.3668T>C (CUL7)	XP_011513321.1:p.Ile1223Thr
XM_011515020.2:c.3572T>C (CUL7)	XP_011513322.1:p.Ile1191Thr
XM_017011533.1:c.3695T>C (CUL7)	XP_016867022.1:p.Ile1232Thr
XM_017011534.1:c.3695T>C (CUL7)	XP_016867023.1:p.Ile1232Thr
XM_017011535.1:c.3599T>C (CUL7)	XP_016867024.1:p.Ile1200Thr
XM_017011536.2:c.3539T>C (CUL7)	XP_016867025.1:p.Ile1180Thr
XM_017011537.2:c.3512T>C (CUL7)	XP_016867026.1:p.Ile1171Thr
XM_017011538.2:c.3443T>C (CUL7)	XP_016867027.1:p.Ile1148Thr
XM_017011539.2:c.3416T>C (CUL7)	XP_016867028.1:p.Ile1139Thr
NM_001168370.2:c.3512T>C (CUL7)	NP_001161842.2:p.Ile1171Thr
NM_001374872.1:c.3512T>C (CUL7)	NP_001361801.1:p.Ile1171Thr
NM_001374873.1:c.3416T>C (CUL7)	NP_001361802.1:p.Ile1139Thr
NM_001374874.1:c.3413T>C (CUL7)	NP_001361803.1:p.Ile1138Thr
NM_014780.5:c.3416T>C (CUL7) MANE Select	NP_055595.2:p.Ile1139Thr