Canonical Allele Identifier: CA364218368

Gene: CUL7 KLC4

Linked Data

• MyVariant Identifiers: chr6:g.43015933C>G (hg19) ; chr6:g.43048195C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048195C>G , CM000668.2:g.43048195C>G	GRCh38
NC_000006.11:g.43015933C>G , CM000668.1:g.43015933C>G	GRCh37
NC_000006.10:g.43123911C>G	NCBI36
NG_016205.1:g.10751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.2122G>C (CUL7)	ENSP00000501166.2:p.Val708Leu
ENST00000685042.1:c.2122G>C (CUL7)	ENSP00000509871.1:p.Val708Leu
ENST00000686442.1:n.2405G>C (CUL7)
ENST00000687225.1:c.2218G>C (CUL7)	ENSP00000509364.1:p.Val740Leu
ENST00000688302.1:n.2405G>C (CUL7)
ENST00000689256.1:n.2421G>C (CUL7)
ENST00000690231.1:c.2122G>C (CUL7)	ENSP00000508461.1:p.Val708Leu
ENST00000265348.9:c.2122G>C (CUL7) MANE Select	ENSP00000265348.4:p.Val708Leu
ENST00000673725.1:c.71G>C (CUL7)
ENST00000673753.1:n.2456G>C (CUL7)
ENST00000674100.1:c.2218G>C (CUL7)	ENSP00000501292.1:p.Val740Leu
ENST00000674112.1:c.614G>C (CUL7)
ENST00000674134.1:c.2218G>C (CUL7)	ENSP00000501068.1:p.Val740Leu
ENST00000265348.7:c.2122G>C (CUL7)	ENSP00000265348.3:p.Val708Leu
ENST00000467906.5:c.-553+4687C>G (KLC4)	ENSP00000418759.1:n.-553+4687C>G
ENST00000535468.1:c.2374G>C (CUL7)	ENSP00000438788.1:p.Val792Leu
NM_001168370.1:c.2374G>C (CUL7)	NP_001161842.1:p.Val792Leu
NM_014780.4:c.2122G>C (CUL7)	NP_055595.2:p.Val708Leu
XM_005249503.1:c.2278G>C (CUL7)	XP_005249560.1:p.Val760Leu
XM_006715285.1:c.2218G>C (CUL7)	XP_006715348.1:p.Val740Leu
XM_011515019.1:c.2374G>C (CUL7)	XP_011513321.1:p.Val792Leu
XM_011515020.1:c.2278G>C (CUL7)	XP_011513322.1:p.Val760Leu
XM_011515021.1:c.-61G>C (CUL7)	XP_011513323.1:n.-61G>C
XM_005249503.3:c.2278G>C (CUL7)	XP_005249560.1:p.Val760Leu
XM_006715285.2:c.2218G>C (CUL7)	XP_006715348.1:p.Val740Leu
XM_011515019.2:c.2374G>C (CUL7)	XP_011513321.1:p.Val792Leu
XM_011515020.2:c.2278G>C (CUL7)	XP_011513322.1:p.Val760Leu
XM_017011533.1:c.2401G>C (CUL7)	XP_016867022.1:p.Val801Leu
XM_017011534.1:c.2401G>C (CUL7)	XP_016867023.1:p.Val801Leu
XM_017011535.1:c.2305G>C (CUL7)	XP_016867024.1:p.Val769Leu
XM_017011536.2:c.2245G>C (CUL7)	XP_016867025.1:p.Val749Leu
XM_017011537.2:c.2218G>C (CUL7)	XP_016867026.1:p.Val740Leu
XM_017011538.2:c.2149G>C (CUL7)	XP_016867027.1:p.Val717Leu
XM_017011539.2:c.2122G>C (CUL7)	XP_016867028.1:p.Val708Leu
XM_017011540.1:c.2401G>C (CUL7)	XP_016867029.1:p.Val801Leu
NM_001168370.2:c.2218G>C (CUL7)	NP_001161842.2:p.Val740Leu
NM_001374872.1:c.2218G>C (CUL7)	NP_001361801.1:p.Val740Leu
NM_001374873.1:c.2122G>C (CUL7)	NP_001361802.1:p.Val708Leu
NM_001374874.1:c.2122G>C (CUL7)	NP_001361803.1:p.Val708Leu
NM_014780.5:c.2122G>C (CUL7) MANE Select	NP_055595.2:p.Val708Leu