Canonical Allele Identifier: CA3813478

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs761491048
• ExAC: 6:43010789 C / T
• gnomAD v2: 6-43010789-C-T
• gnomAD v4: 6-43043051-C-T
• MyVariant Identifiers: chr6:g.43010789C>T (hg19) ; chr6:g.43043051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43043051C>T , CM000668.2:g.43043051C>T	GRCh38
NC_000006.11:g.43010789C>T , CM000668.1:g.43010789C>T	GRCh37
NC_000006.10:g.43118767C>T	NCBI36
NG_016205.1:g.15895G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478630.2:n.1533+23G>A (CUL7)
ENST00000674112.2:c.3462+23G>A (CUL7)	ENSP00000501166.2:n.3462+23G>A
ENST00000685042.1:c.*118+23G>A (CUL7)	ENSP00000509871.1:n.*118+23G>A
ENST00000686442.1:n.4023+23G>A (CUL7)
ENST00000687225.1:c.*1759+23G>A (CUL7)	ENSP00000509364.1:n.*1759+23G>A
ENST00000688302.1:n.3745+23G>A (CUL7)
ENST00000689256.1:n.4039+23G>A (CUL7)
ENST00000690231.1:c.3462+23G>A (CUL7)	ENSP00000508461.1:n.3462+23G>A
ENST00000265348.9:c.3462+23G>A (CUL7) MANE Select	ENSP00000265348.4:n.3462+23G>A
ENST00000673725.1:c.1411+23G>A (CUL7)
ENST00000673753.1:n.4301+23G>A (CUL7)
ENST00000674100.1:c.3558+23G>A (CUL7)	ENSP00000501292.1:n.3558+23G>A
ENST00000674112.1:c.1954+23G>A (CUL7)
ENST00000674134.1:c.3558+23G>A (CUL7)	ENSP00000501068.1:n.3558+23G>A
ENST00000265348.7:c.3462+23G>A (CUL7)	ENSP00000265348.3:n.3462+23G>A
ENST00000467906.5:c.-1003-7C>T (KLC4)	ENSP00000418759.1:n.-1003-7C>T
ENST00000535468.1:c.3714+23G>A (CUL7)	ENSP00000438788.1:n.3714+23G>A
NM_001168370.1:c.3714+23G>A (CUL7)	NP_001161842.1:n.3714+23G>A
NM_014780.4:c.3462+23G>A (CUL7)	NP_055595.2:n.3462+23G>A
XM_005249503.1:c.3618+23G>A (CUL7)	XP_005249560.1:n.3618+23G>A
XM_006715285.1:c.3558+23G>A (CUL7)	XP_006715348.1:n.3558+23G>A
XM_011515019.1:c.3714+23G>A (CUL7)	XP_011513321.1:n.3714+23G>A
XM_011515020.1:c.3618+23G>A (CUL7)	XP_011513322.1:n.3618+23G>A
XM_011515021.1:c.1323+23G>A (CUL7)	XP_011513323.1:n.1323+23G>A
XM_005249503.3:c.3618+23G>A (CUL7)	XP_005249560.1:n.3618+23G>A
XM_006715285.2:c.3558+23G>A (CUL7)	XP_006715348.1:n.3558+23G>A
XM_011515019.2:c.3714+23G>A (CUL7)	XP_011513321.1:n.3714+23G>A
XM_011515020.2:c.3618+23G>A (CUL7)	XP_011513322.1:n.3618+23G>A
XM_017011533.1:c.3741+23G>A (CUL7)	XP_016867022.1:n.3741+23G>A
XM_017011534.1:c.3741+23G>A (CUL7)	XP_016867023.1:n.3741+23G>A
XM_017011535.1:c.3645+23G>A (CUL7)	XP_016867024.1:n.3645+23G>A
XM_017011536.2:c.3585+23G>A (CUL7)	XP_016867025.1:n.3585+23G>A
XM_017011537.2:c.3558+23G>A (CUL7)	XP_016867026.1:n.3558+23G>A
XM_017011538.2:c.3489+23G>A (CUL7)	XP_016867027.1:n.3489+23G>A
XM_017011539.2:c.3462+23G>A (CUL7)	XP_016867028.1:n.3462+23G>A
NM_001168370.2:c.3558+23G>A (CUL7)	NP_001161842.2:n.3558+23G>A
NM_001374872.1:c.3558+23G>A (CUL7)	NP_001361801.1:n.3558+23G>A
NM_001374873.1:c.3462+23G>A (CUL7)	NP_001361802.1:n.3462+23G>A
NM_001374874.1:c.3459+23G>A (CUL7)	NP_001361803.1:n.3459+23G>A
NM_014780.5:c.3462+23G>A (CUL7) MANE Select	NP_055595.2:n.3462+23G>A