Canonical Allele Identifier: CA3813491

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 260439
• ClinVar RCV Id: RCV000246838 ; RCV000270729 ; RCV000725383
• dbSNP Id: rs144556973
• ExAC: 6:43010842 C / T
• gnomAD v2: 6-43010842-C-T
• gnomAD v3: 6-43043104-C-T
• gnomAD v4: 6-43043104-C-T
• MyVariant Identifiers: chr6:g.43010842C>T (hg19) ; chr6:g.43043104C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43043104C>T , CM000668.2:g.43043104C>T	GRCh38
NC_000006.11:g.43010842C>T , CM000668.1:g.43010842C>T	GRCh37
NC_000006.10:g.43118820C>T	NCBI36
NG_016205.1:g.15842G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478630.2:n.1503G>A (CUL7)
ENST00000674112.2:c.3432G>A (CUL7)	ENSP00000501166.2:p.Thr1144=
ENST00000685042.1:c.*88G>A (CUL7)	ENSP00000509871.1:n.*88G>A
ENST00000686442.1:n.3993G>A (CUL7)
ENST00000687225.1:c.*1729G>A (CUL7)	ENSP00000509364.1:n.*1729G>A
ENST00000688302.1:n.3715G>A (CUL7)
ENST00000689256.1:n.4009G>A (CUL7)
ENST00000690231.1:c.3432G>A (CUL7)	ENSP00000508461.1:p.Thr1144=
ENST00000265348.9:c.3432G>A (CUL7) MANE Select	ENSP00000265348.4:p.Thr1144=
ENST00000673725.1:c.1381G>A (CUL7)
ENST00000673753.1:n.4271G>A (CUL7)
ENST00000674100.1:c.3528G>A (CUL7)	ENSP00000501292.1:p.Thr1176=
ENST00000674112.1:c.1924G>A (CUL7)
ENST00000674134.1:c.3528G>A (CUL7)	ENSP00000501068.1:p.Thr1176=
ENST00000265348.7:c.3432G>A (CUL7)	ENSP00000265348.3:p.Thr1144=
ENST00000467906.5:c.-957C>T (KLC4)	ENSP00000418759.1:n.-957C>T
ENST00000535468.1:c.3684G>A (CUL7)	ENSP00000438788.1:p.Thr1228=
NM_001168370.1:c.3684G>A (CUL7)	NP_001161842.1:p.Thr1228=
NM_014780.4:c.3432G>A (CUL7)	NP_055595.2:p.Thr1144=
XM_005249503.1:c.3588G>A (CUL7)	XP_005249560.1:p.Thr1196=
XM_006715285.1:c.3528G>A (CUL7)	XP_006715348.1:p.Thr1176=
XM_011515019.1:c.3684G>A (CUL7)	XP_011513321.1:p.Thr1228=
XM_011515020.1:c.3588G>A (CUL7)	XP_011513322.1:p.Thr1196=
XM_011515021.1:c.1293G>A (CUL7)	XP_011513323.1:p.Thr431=
XM_005249503.3:c.3588G>A (CUL7)	XP_005249560.1:p.Thr1196=
XM_006715285.2:c.3528G>A (CUL7)	XP_006715348.1:p.Thr1176=
XM_011515019.2:c.3684G>A (CUL7)	XP_011513321.1:p.Thr1228=
XM_011515020.2:c.3588G>A (CUL7)	XP_011513322.1:p.Thr1196=
XM_017011533.1:c.3711G>A (CUL7)	XP_016867022.1:p.Thr1237=
XM_017011534.1:c.3711G>A (CUL7)	XP_016867023.1:p.Thr1237=
XM_017011535.1:c.3615G>A (CUL7)	XP_016867024.1:p.Thr1205=
XM_017011536.2:c.3555G>A (CUL7)	XP_016867025.1:p.Thr1185=
XM_017011537.2:c.3528G>A (CUL7)	XP_016867026.1:p.Thr1176=
XM_017011538.2:c.3459G>A (CUL7)	XP_016867027.1:p.Thr1153=
XM_017011539.2:c.3432G>A (CUL7)	XP_016867028.1:p.Thr1144=
NM_001168370.2:c.3528G>A (CUL7)	NP_001161842.2:p.Thr1176=
NM_001374872.1:c.3528G>A (CUL7)	NP_001361801.1:p.Thr1176=
NM_001374873.1:c.3432G>A (CUL7)	NP_001361802.1:p.Thr1144=
NM_001374874.1:c.3429G>A (CUL7)	NP_001361803.1:p.Thr1143=
NM_014780.5:c.3432G>A (CUL7) MANE Select	NP_055595.2:p.Thr1144=