Canonical Allele Identifier: CA364203136

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 1520741
• ClinVar RCV Id: RCV002030924
• dbSNP Id: rs2150315991
• gnomAD v4: 6-43042977-T-C
• MyVariant Identifiers: chr6:g.43010715T>C (hg19) ; chr6:g.43042977T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042977T>C , CM000668.2:g.43042977T>C	GRCh38
NC_000006.11:g.43010715T>C , CM000668.1:g.43010715T>C	GRCh37
NC_000006.10:g.43118693T>C	NCBI36
NG_016205.1:g.15969A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1541A>G (CUL7)
ENST00000674112.2:c.3470A>G (CUL7)	ENSP00000501166.2:p.Asn1157Ser
ENST00000685042.1:c.*126A>G (CUL7)	ENSP00000509871.1:n.*126A>G
ENST00000686442.1:n.4031A>G (CUL7)
ENST00000687225.1:c.*1767A>G (CUL7)	ENSP00000509364.1:n.*1767A>G
ENST00000688302.1:n.3753A>G (CUL7)
ENST00000689256.1:n.4047A>G (CUL7)
ENST00000690231.1:c.3470A>G (CUL7)	ENSP00000508461.1:p.Asn1157Ser
ENST00000265348.9:c.3470A>G (CUL7) MANE Select	ENSP00000265348.4:p.Asn1157Ser
ENST00000673725.1:c.1412-71A>G (CUL7)
ENST00000673753.1:n.4309A>G (CUL7)
ENST00000674100.1:c.3566A>G (CUL7)	ENSP00000501292.1:p.Asn1189Ser
ENST00000674112.1:c.1962A>G (CUL7)
ENST00000674134.1:c.3566A>G (CUL7)	ENSP00000501068.1:p.Asn1189Ser
ENST00000265348.7:c.3470A>G (CUL7)	ENSP00000265348.3:p.Asn1157Ser
ENST00000467906.5:c.-1003-81T>C (KLC4)	ENSP00000418759.1:n.-1003-81T>C
ENST00000535468.1:c.3722A>G (CUL7)	ENSP00000438788.1:p.Asn1241Ser
NM_001168370.1:c.3722A>G (CUL7)	NP_001161842.1:p.Asn1241Ser
NM_014780.4:c.3470A>G (CUL7)	NP_055595.2:p.Asn1157Ser
XM_005249503.1:c.3626A>G (CUL7)	XP_005249560.1:p.Asn1209Ser
XM_006715285.1:c.3566A>G (CUL7)	XP_006715348.1:p.Asn1189Ser
XM_011515019.1:c.3722A>G (CUL7)	XP_011513321.1:p.Asn1241Ser
XM_011515020.1:c.3626A>G (CUL7)	XP_011513322.1:p.Asn1209Ser
XM_011515021.1:c.1331A>G (CUL7)	XP_011513323.1:p.Asn444Ser
XM_005249503.3:c.3626A>G (CUL7)	XP_005249560.1:p.Asn1209Ser
XM_006715285.2:c.3566A>G (CUL7)	XP_006715348.1:p.Asn1189Ser
XM_011515019.2:c.3722A>G (CUL7)	XP_011513321.1:p.Asn1241Ser
XM_011515020.2:c.3626A>G (CUL7)	XP_011513322.1:p.Asn1209Ser
XM_017011533.1:c.3749A>G (CUL7)	XP_016867022.1:p.Asn1250Ser
XM_017011534.1:c.3749A>G (CUL7)	XP_016867023.1:p.Asn1250Ser
XM_017011535.1:c.3653A>G (CUL7)	XP_016867024.1:p.Asn1218Ser
XM_017011536.2:c.3593A>G (CUL7)	XP_016867025.1:p.Asn1198Ser
XM_017011537.2:c.3566A>G (CUL7)	XP_016867026.1:p.Asn1189Ser
XM_017011538.2:c.3497A>G (CUL7)	XP_016867027.1:p.Asn1166Ser
XM_017011539.2:c.3470A>G (CUL7)	XP_016867028.1:p.Asn1157Ser
NM_001168370.2:c.3566A>G (CUL7)	NP_001161842.2:p.Asn1189Ser
NM_001374872.1:c.3566A>G (CUL7)	NP_001361801.1:p.Asn1189Ser
NM_001374873.1:c.3470A>G (CUL7)	NP_001361802.1:p.Asn1157Ser
NM_001374874.1:c.3467A>G (CUL7)	NP_001361803.1:p.Asn1156Ser
NM_014780.5:c.3470A>G (CUL7) MANE Select	NP_055595.2:p.Asn1157Ser