Canonical Allele Identifier: CA364202903

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs747268494
• gnomAD v4: 6-43042916-A-T
• MyVariant Identifiers: chr6:g.43010654A>T (hg19) ; chr6:g.43042916A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042916A>T , CM000668.2:g.43042916A>T	GRCh38
NC_000006.11:g.43010654A>T , CM000668.1:g.43010654A>T	GRCh37
NC_000006.10:g.43118632A>T	NCBI36
NG_016205.1:g.16030T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1602T>A (CUL7)
ENST00000674112.2:c.3531T>A (CUL7)	ENSP00000501166.2:p.Asn1177Lys
ENST00000685042.1:c.*187T>A (CUL7)	ENSP00000509871.1:n.*187T>A
ENST00000686442.1:n.4092T>A (CUL7)
ENST00000687225.1:c.*1828T>A (CUL7)	ENSP00000509364.1:n.*1828T>A
ENST00000688302.1:n.3814T>A (CUL7)
ENST00000689256.1:n.4108T>A (CUL7)
ENST00000690231.1:c.3531T>A (CUL7)	ENSP00000508461.1:p.Asn1177Lys
ENST00000265348.9:c.3531T>A (CUL7) MANE Select	ENSP00000265348.4:p.Asn1177Lys
ENST00000673725.1:c.1412-10T>A (CUL7)
ENST00000673753.1:n.4370T>A (CUL7)
ENST00000674100.1:c.3627T>A (CUL7)	ENSP00000501292.1:p.Asn1209Lys
ENST00000674112.1:c.2023T>A (CUL7)
ENST00000674134.1:c.3627T>A (CUL7)	ENSP00000501068.1:p.Asn1209Lys
ENST00000265348.7:c.3531T>A (CUL7)	ENSP00000265348.3:p.Asn1177Lys
ENST00000467906.5:c.-1003-142A>T (KLC4)	ENSP00000418759.1:n.-1003-142A>T
ENST00000535468.1:c.3783T>A (CUL7)	ENSP00000438788.1:p.Asn1261Lys
NM_001168370.1:c.3783T>A (CUL7)	NP_001161842.1:p.Asn1261Lys
NM_014780.4:c.3531T>A (CUL7)	NP_055595.2:p.Asn1177Lys
XM_005249503.1:c.3687T>A (CUL7)	XP_005249560.1:p.Asn1229Lys
XM_006715285.1:c.3627T>A (CUL7)	XP_006715348.1:p.Asn1209Lys
XM_011515019.1:c.3783T>A (CUL7)	XP_011513321.1:p.Asn1261Lys
XM_011515020.1:c.3687T>A (CUL7)	XP_011513322.1:p.Asn1229Lys
XM_011515021.1:c.1392T>A (CUL7)	XP_011513323.1:p.Asn464Lys
XM_005249503.3:c.3687T>A (CUL7)	XP_005249560.1:p.Asn1229Lys
XM_006715285.2:c.3627T>A (CUL7)	XP_006715348.1:p.Asn1209Lys
XM_011515019.2:c.3783T>A (CUL7)	XP_011513321.1:p.Asn1261Lys
XM_011515020.2:c.3687T>A (CUL7)	XP_011513322.1:p.Asn1229Lys
XM_017011533.1:c.3810T>A (CUL7)	XP_016867022.1:p.Asn1270Lys
XM_017011534.1:c.3810T>A (CUL7)	XP_016867023.1:p.Asn1270Lys
XM_017011535.1:c.3714T>A (CUL7)	XP_016867024.1:p.Asn1238Lys
XM_017011536.2:c.3654T>A (CUL7)	XP_016867025.1:p.Asn1218Lys
XM_017011537.2:c.3627T>A (CUL7)	XP_016867026.1:p.Asn1209Lys
XM_017011538.2:c.3558T>A (CUL7)	XP_016867027.1:p.Asn1186Lys
XM_017011539.2:c.3531T>A (CUL7)	XP_016867028.1:p.Asn1177Lys
NM_001168370.2:c.3627T>A (CUL7)	NP_001161842.2:p.Asn1209Lys
NM_001374872.1:c.3627T>A (CUL7)	NP_001361801.1:p.Asn1209Lys
NM_001374873.1:c.3531T>A (CUL7)	NP_001361802.1:p.Asn1177Lys
NM_001374874.1:c.3528T>A (CUL7)	NP_001361803.1:p.Asn1176Lys
NM_014780.5:c.3531T>A (CUL7) MANE Select	NP_055595.2:p.Asn1177Lys