Canonical Allele Identifier: CA364203329

Gene: CUL7 KLC4

Linked Data

• gnomAD v4: 6-43043099-C-T
• MyVariant Identifiers: chr6:g.43010837C>T (hg19) ; chr6:g.43043099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43043099C>T , CM000668.2:g.43043099C>T	GRCh38
NC_000006.11:g.43010837C>T , CM000668.1:g.43010837C>T	GRCh37
NC_000006.10:g.43118815C>T	NCBI36
NG_016205.1:g.15847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1508G>A (CUL7)
ENST00000674112.2:c.3437G>A (CUL7)	ENSP00000501166.2:p.Cys1146Tyr
ENST00000685042.1:c.*93G>A (CUL7)	ENSP00000509871.1:n.*93G>A
ENST00000686442.1:n.3998G>A (CUL7)
ENST00000687225.1:c.*1734G>A (CUL7)	ENSP00000509364.1:n.*1734G>A
ENST00000688302.1:n.3720G>A (CUL7)
ENST00000689256.1:n.4014G>A (CUL7)
ENST00000690231.1:c.3437G>A (CUL7)	ENSP00000508461.1:p.Cys1146Tyr
ENST00000265348.9:c.3437G>A (CUL7) MANE Select	ENSP00000265348.4:p.Cys1146Tyr
ENST00000673725.1:c.1386G>A (CUL7)
ENST00000673753.1:n.4276G>A (CUL7)
ENST00000674100.1:c.3533G>A (CUL7)	ENSP00000501292.1:p.Cys1178Tyr
ENST00000674112.1:c.1929G>A (CUL7)
ENST00000674134.1:c.3533G>A (CUL7)	ENSP00000501068.1:p.Cys1178Tyr
ENST00000265348.7:c.3437G>A (CUL7)	ENSP00000265348.3:p.Cys1146Tyr
ENST00000467906.5:c.-962C>T (KLC4)	ENSP00000418759.1:n.-962C>T
ENST00000535468.1:c.3689G>A (CUL7)	ENSP00000438788.1:p.Cys1230Tyr
NM_001168370.1:c.3689G>A (CUL7)	NP_001161842.1:p.Cys1230Tyr
NM_014780.4:c.3437G>A (CUL7)	NP_055595.2:p.Cys1146Tyr
XM_005249503.1:c.3593G>A (CUL7)	XP_005249560.1:p.Cys1198Tyr
XM_006715285.1:c.3533G>A (CUL7)	XP_006715348.1:p.Cys1178Tyr
XM_011515019.1:c.3689G>A (CUL7)	XP_011513321.1:p.Cys1230Tyr
XM_011515020.1:c.3593G>A (CUL7)	XP_011513322.1:p.Cys1198Tyr
XM_011515021.1:c.1298G>A (CUL7)	XP_011513323.1:p.Cys433Tyr
XM_005249503.3:c.3593G>A (CUL7)	XP_005249560.1:p.Cys1198Tyr
XM_006715285.2:c.3533G>A (CUL7)	XP_006715348.1:p.Cys1178Tyr
XM_011515019.2:c.3689G>A (CUL7)	XP_011513321.1:p.Cys1230Tyr
XM_011515020.2:c.3593G>A (CUL7)	XP_011513322.1:p.Cys1198Tyr
XM_017011533.1:c.3716G>A (CUL7)	XP_016867022.1:p.Cys1239Tyr
XM_017011534.1:c.3716G>A (CUL7)	XP_016867023.1:p.Cys1239Tyr
XM_017011535.1:c.3620G>A (CUL7)	XP_016867024.1:p.Cys1207Tyr
XM_017011536.2:c.3560G>A (CUL7)	XP_016867025.1:p.Cys1187Tyr
XM_017011537.2:c.3533G>A (CUL7)	XP_016867026.1:p.Cys1178Tyr
XM_017011538.2:c.3464G>A (CUL7)	XP_016867027.1:p.Cys1155Tyr
XM_017011539.2:c.3437G>A (CUL7)	XP_016867028.1:p.Cys1146Tyr
NM_001168370.2:c.3533G>A (CUL7)	NP_001161842.2:p.Cys1178Tyr
NM_001374872.1:c.3533G>A (CUL7)	NP_001361801.1:p.Cys1178Tyr
NM_001374873.1:c.3437G>A (CUL7)	NP_001361802.1:p.Cys1146Tyr
NM_001374874.1:c.3434G>A (CUL7)	NP_001361803.1:p.Cys1145Tyr
NM_014780.5:c.3437G>A (CUL7) MANE Select	NP_055595.2:p.Cys1146Tyr