Canonical Allele Identifier: CA364202906

Gene: CUL7 KLC4

Linked Data

• gnomAD v4: 6-43042917-T-C
• MyVariant Identifiers: chr6:g.43010655T>C (hg19) ; chr6:g.43042917T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042917T>C , CM000668.2:g.43042917T>C	GRCh38
NC_000006.11:g.43010655T>C , CM000668.1:g.43010655T>C	GRCh37
NC_000006.10:g.43118633T>C	NCBI36
NG_016205.1:g.16029A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1601A>G (CUL7)
ENST00000674112.2:c.3530A>G (CUL7)	ENSP00000501166.2:p.Asn1177Ser
ENST00000685042.1:c.*186A>G (CUL7)	ENSP00000509871.1:n.*186A>G
ENST00000686442.1:n.4091A>G (CUL7)
ENST00000687225.1:c.*1827A>G (CUL7)	ENSP00000509364.1:n.*1827A>G
ENST00000688302.1:n.3813A>G (CUL7)
ENST00000689256.1:n.4107A>G (CUL7)
ENST00000690231.1:c.3530A>G (CUL7)	ENSP00000508461.1:p.Asn1177Ser
ENST00000265348.9:c.3530A>G (CUL7) MANE Select	ENSP00000265348.4:p.Asn1177Ser
ENST00000673725.1:c.1412-11A>G (CUL7)
ENST00000673753.1:n.4369A>G (CUL7)
ENST00000674100.1:c.3626A>G (CUL7)	ENSP00000501292.1:p.Asn1209Ser
ENST00000674112.1:c.2022A>G (CUL7)
ENST00000674134.1:c.3626A>G (CUL7)	ENSP00000501068.1:p.Asn1209Ser
ENST00000265348.7:c.3530A>G (CUL7)	ENSP00000265348.3:p.Asn1177Ser
ENST00000467906.5:c.-1003-141T>C (KLC4)	ENSP00000418759.1:n.-1003-141T>C
ENST00000535468.1:c.3782A>G (CUL7)	ENSP00000438788.1:p.Asn1261Ser
NM_001168370.1:c.3782A>G (CUL7)	NP_001161842.1:p.Asn1261Ser
NM_014780.4:c.3530A>G (CUL7)	NP_055595.2:p.Asn1177Ser
XM_005249503.1:c.3686A>G (CUL7)	XP_005249560.1:p.Asn1229Ser
XM_006715285.1:c.3626A>G (CUL7)	XP_006715348.1:p.Asn1209Ser
XM_011515019.1:c.3782A>G (CUL7)	XP_011513321.1:p.Asn1261Ser
XM_011515020.1:c.3686A>G (CUL7)	XP_011513322.1:p.Asn1229Ser
XM_011515021.1:c.1391A>G (CUL7)	XP_011513323.1:p.Asn464Ser
XM_005249503.3:c.3686A>G (CUL7)	XP_005249560.1:p.Asn1229Ser
XM_006715285.2:c.3626A>G (CUL7)	XP_006715348.1:p.Asn1209Ser
XM_011515019.2:c.3782A>G (CUL7)	XP_011513321.1:p.Asn1261Ser
XM_011515020.2:c.3686A>G (CUL7)	XP_011513322.1:p.Asn1229Ser
XM_017011533.1:c.3809A>G (CUL7)	XP_016867022.1:p.Asn1270Ser
XM_017011534.1:c.3809A>G (CUL7)	XP_016867023.1:p.Asn1270Ser
XM_017011535.1:c.3713A>G (CUL7)	XP_016867024.1:p.Asn1238Ser
XM_017011536.2:c.3653A>G (CUL7)	XP_016867025.1:p.Asn1218Ser
XM_017011537.2:c.3626A>G (CUL7)	XP_016867026.1:p.Asn1209Ser
XM_017011538.2:c.3557A>G (CUL7)	XP_016867027.1:p.Asn1186Ser
XM_017011539.2:c.3530A>G (CUL7)	XP_016867028.1:p.Asn1177Ser
NM_001168370.2:c.3626A>G (CUL7)	NP_001161842.2:p.Asn1209Ser
NM_001374872.1:c.3626A>G (CUL7)	NP_001361801.1:p.Asn1209Ser
NM_001374873.1:c.3530A>G (CUL7)	NP_001361802.1:p.Asn1177Ser
NM_001374874.1:c.3527A>G (CUL7)	NP_001361803.1:p.Asn1176Ser
NM_014780.5:c.3530A>G (CUL7) MANE Select	NP_055595.2:p.Asn1177Ser