Canonical Allele Identifier: CA364203132

Gene: CUL7 KLC4

Linked Data

• gnomAD v4: 6-43042975-A-T
• MyVariant Identifiers: chr6:g.43010713A>T (hg19) ; chr6:g.43042975A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042975A>T , CM000668.2:g.43042975A>T	GRCh38
NC_000006.11:g.43010713A>T , CM000668.1:g.43010713A>T	GRCh37
NC_000006.10:g.43118691A>T	NCBI36
NG_016205.1:g.15971T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1543T>A (CUL7)
ENST00000674112.2:c.3472T>A (CUL7)	ENSP00000501166.2:p.Phe1158Ile
ENST00000685042.1:c.*128T>A (CUL7)	ENSP00000509871.1:n.*128T>A
ENST00000686442.1:n.4033T>A (CUL7)
ENST00000687225.1:c.*1769T>A (CUL7)	ENSP00000509364.1:n.*1769T>A
ENST00000688302.1:n.3755T>A (CUL7)
ENST00000689256.1:n.4049T>A (CUL7)
ENST00000690231.1:c.3472T>A (CUL7)	ENSP00000508461.1:p.Phe1158Ile
ENST00000265348.9:c.3472T>A (CUL7) MANE Select	ENSP00000265348.4:p.Phe1158Ile
ENST00000673725.1:c.1412-69T>A (CUL7)
ENST00000673753.1:n.4311T>A (CUL7)
ENST00000674100.1:c.3568T>A (CUL7)	ENSP00000501292.1:p.Phe1190Ile
ENST00000674112.1:c.1964T>A (CUL7)
ENST00000674134.1:c.3568T>A (CUL7)	ENSP00000501068.1:p.Phe1190Ile
ENST00000265348.7:c.3472T>A (CUL7)	ENSP00000265348.3:p.Phe1158Ile
ENST00000467906.5:c.-1003-83A>T (KLC4)	ENSP00000418759.1:n.-1003-83A>T
ENST00000535468.1:c.3724T>A (CUL7)	ENSP00000438788.1:p.Phe1242Ile
NM_001168370.1:c.3724T>A (CUL7)	NP_001161842.1:p.Phe1242Ile
NM_014780.4:c.3472T>A (CUL7)	NP_055595.2:p.Phe1158Ile
XM_005249503.1:c.3628T>A (CUL7)	XP_005249560.1:p.Phe1210Ile
XM_006715285.1:c.3568T>A (CUL7)	XP_006715348.1:p.Phe1190Ile
XM_011515019.1:c.3724T>A (CUL7)	XP_011513321.1:p.Phe1242Ile
XM_011515020.1:c.3628T>A (CUL7)	XP_011513322.1:p.Phe1210Ile
XM_011515021.1:c.1333T>A (CUL7)	XP_011513323.1:p.Phe445Ile
XM_005249503.3:c.3628T>A (CUL7)	XP_005249560.1:p.Phe1210Ile
XM_006715285.2:c.3568T>A (CUL7)	XP_006715348.1:p.Phe1190Ile
XM_011515019.2:c.3724T>A (CUL7)	XP_011513321.1:p.Phe1242Ile
XM_011515020.2:c.3628T>A (CUL7)	XP_011513322.1:p.Phe1210Ile
XM_017011533.1:c.3751T>A (CUL7)	XP_016867022.1:p.Phe1251Ile
XM_017011534.1:c.3751T>A (CUL7)	XP_016867023.1:p.Phe1251Ile
XM_017011535.1:c.3655T>A (CUL7)	XP_016867024.1:p.Phe1219Ile
XM_017011536.2:c.3595T>A (CUL7)	XP_016867025.1:p.Phe1199Ile
XM_017011537.2:c.3568T>A (CUL7)	XP_016867026.1:p.Phe1190Ile
XM_017011538.2:c.3499T>A (CUL7)	XP_016867027.1:p.Phe1167Ile
XM_017011539.2:c.3472T>A (CUL7)	XP_016867028.1:p.Phe1158Ile
NM_001168370.2:c.3568T>A (CUL7)	NP_001161842.2:p.Phe1190Ile
NM_001374872.1:c.3568T>A (CUL7)	NP_001361801.1:p.Phe1190Ile
NM_001374873.1:c.3472T>A (CUL7)	NP_001361802.1:p.Phe1158Ile
NM_001374874.1:c.3469T>A (CUL7)	NP_001361803.1:p.Phe1157Ile
NM_014780.5:c.3472T>A (CUL7) MANE Select	NP_055595.2:p.Phe1158Ile