Canonical Allele Identifier: CA450369643

Gene: CUL7 KLC4

Linked Data

• gnomAD v4: 6-43042919-A-G
• MyVariant Identifiers: chr6:g.43010657A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042919A>G , CM000668.2:g.43042919A>G	GRCh38
NC_000006.11:g.43010657A>G , CM000668.1:g.43010657A>G	GRCh37
NC_000006.10:g.43118635A>G	NCBI36
NG_016205.1:g.16027T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1599T>C (CUL7)
ENST00000674112.2:c.3528T>C (CUL7)	ENSP00000501166.2:p.Phe1176=
ENST00000685042.1:c.*184T>C (CUL7)	ENSP00000509871.1:n.*184T>C
ENST00000686442.1:n.4089T>C (CUL7)
ENST00000687225.1:c.*1825T>C (CUL7)	ENSP00000509364.1:n.*1825T>C
ENST00000688302.1:n.3811T>C (CUL7)
ENST00000689256.1:n.4105T>C (CUL7)
ENST00000690231.1:c.3528T>C (CUL7)	ENSP00000508461.1:p.Phe1176=
ENST00000265348.9:c.3528T>C (CUL7) MANE Select	ENSP00000265348.4:p.Phe1176=
ENST00000673725.1:c.1412-13T>C (CUL7)
ENST00000673753.1:n.4367T>C (CUL7)
ENST00000674100.1:c.3624T>C (CUL7)	ENSP00000501292.1:p.Phe1208=
ENST00000674112.1:c.2020T>C (CUL7)
ENST00000674134.1:c.3624T>C (CUL7)	ENSP00000501068.1:p.Phe1208=
ENST00000265348.7:c.3528T>C (CUL7)	ENSP00000265348.3:p.Phe1176=
ENST00000467906.5:c.-1003-139A>G (KLC4)	ENSP00000418759.1:n.-1003-139A>G
ENST00000535468.1:c.3780T>C (CUL7)	ENSP00000438788.1:p.Phe1260=
NM_001168370.1:c.3780T>C (CUL7)	NP_001161842.1:p.Phe1260=
NM_014780.4:c.3528T>C (CUL7)	NP_055595.2:p.Phe1176=
XM_005249503.1:c.3684T>C (CUL7)	XP_005249560.1:p.Phe1228=
XM_006715285.1:c.3624T>C (CUL7)	XP_006715348.1:p.Phe1208=
XM_011515019.1:c.3780T>C (CUL7)	XP_011513321.1:p.Phe1260=
XM_011515020.1:c.3684T>C (CUL7)	XP_011513322.1:p.Phe1228=
XM_011515021.1:c.1389T>C (CUL7)	XP_011513323.1:p.Phe463=
XM_005249503.3:c.3684T>C (CUL7)	XP_005249560.1:p.Phe1228=
XM_006715285.2:c.3624T>C (CUL7)	XP_006715348.1:p.Phe1208=
XM_011515019.2:c.3780T>C (CUL7)	XP_011513321.1:p.Phe1260=
XM_011515020.2:c.3684T>C (CUL7)	XP_011513322.1:p.Phe1228=
XM_017011533.1:c.3807T>C (CUL7)	XP_016867022.1:p.Phe1269=
XM_017011534.1:c.3807T>C (CUL7)	XP_016867023.1:p.Phe1269=
XM_017011535.1:c.3711T>C (CUL7)	XP_016867024.1:p.Phe1237=
XM_017011536.2:c.3651T>C (CUL7)	XP_016867025.1:p.Phe1217=
XM_017011537.2:c.3624T>C (CUL7)	XP_016867026.1:p.Phe1208=
XM_017011538.2:c.3555T>C (CUL7)	XP_016867027.1:p.Phe1185=
XM_017011539.2:c.3528T>C (CUL7)	XP_016867028.1:p.Phe1176=
NM_001168370.2:c.3624T>C (CUL7)	NP_001161842.2:p.Phe1208=
NM_001374872.1:c.3624T>C (CUL7)	NP_001361801.1:p.Phe1208=
NM_001374873.1:c.3528T>C (CUL7)	NP_001361802.1:p.Phe1176=
NM_001374874.1:c.3525T>C (CUL7)	NP_001361803.1:p.Phe1175=
NM_014780.5:c.3528T>C (CUL7) MANE Select	NP_055595.2:p.Phe1176=