Canonical Allele Identifier: CA138244850

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs879244898
• MyVariant Identifiers: chr6:g.43010886A>C (hg19) ; chr6:g.43043148A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43043148A>C , CM000668.2:g.43043148A>C	GRCh38
NC_000006.11:g.43010886A>C , CM000668.1:g.43010886A>C	GRCh37
NC_000006.10:g.43118864A>C	NCBI36
NG_016205.1:g.15798T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1459T>G (CUL7)
ENST00000674112.2:c.3388T>G (CUL7)	ENSP00000501166.2:p.Leu1130Val
ENST00000685042.1:c.*44T>G (CUL7)	ENSP00000509871.1:n.*44T>G
ENST00000686442.1:n.3949T>G (CUL7)
ENST00000687225.1:c.*1685T>G (CUL7)	ENSP00000509364.1:n.*1685T>G
ENST00000688302.1:n.3671T>G (CUL7)
ENST00000689256.1:n.3965T>G (CUL7)
ENST00000690231.1:c.3388T>G (CUL7)	ENSP00000508461.1:p.Leu1130Val
ENST00000265348.9:c.3388T>G (CUL7) MANE Select	ENSP00000265348.4:p.Leu1130Val
ENST00000673725.1:c.1337T>G (CUL7)
ENST00000673753.1:n.4227T>G (CUL7)
ENST00000674100.1:c.3484T>G (CUL7)	ENSP00000501292.1:p.Leu1162Val
ENST00000674112.1:c.1880T>G (CUL7)
ENST00000674134.1:c.3484T>G (CUL7)	ENSP00000501068.1:p.Leu1162Val
ENST00000265348.7:c.3388T>G (CUL7)	ENSP00000265348.3:p.Leu1130Val
ENST00000467906.5:c.-913A>C (KLC4)	ENSP00000418759.1:n.-913A>C
ENST00000535468.1:c.3640T>G (CUL7)	ENSP00000438788.1:p.Leu1214Val
NM_001168370.1:c.3640T>G (CUL7)	NP_001161842.1:p.Leu1214Val
NM_014780.4:c.3388T>G (CUL7)	NP_055595.2:p.Leu1130Val
XM_005249503.1:c.3544T>G (CUL7)	XP_005249560.1:p.Leu1182Val
XM_006715285.1:c.3484T>G (CUL7)	XP_006715348.1:p.Leu1162Val
XM_011515019.1:c.3640T>G (CUL7)	XP_011513321.1:p.Leu1214Val
XM_011515020.1:c.3544T>G (CUL7)	XP_011513322.1:p.Leu1182Val
XM_011515021.1:c.1249T>G (CUL7)	XP_011513323.1:p.Leu417Val
XM_005249503.3:c.3544T>G (CUL7)	XP_005249560.1:p.Leu1182Val
XM_006715285.2:c.3484T>G (CUL7)	XP_006715348.1:p.Leu1162Val
XM_011515019.2:c.3640T>G (CUL7)	XP_011513321.1:p.Leu1214Val
XM_011515020.2:c.3544T>G (CUL7)	XP_011513322.1:p.Leu1182Val
XM_017011533.1:c.3667T>G (CUL7)	XP_016867022.1:p.Leu1223Val
XM_017011534.1:c.3667T>G (CUL7)	XP_016867023.1:p.Leu1223Val
XM_017011535.1:c.3571T>G (CUL7)	XP_016867024.1:p.Leu1191Val
XM_017011536.2:c.3511T>G (CUL7)	XP_016867025.1:p.Leu1171Val
XM_017011537.2:c.3484T>G (CUL7)	XP_016867026.1:p.Leu1162Val
XM_017011538.2:c.3415T>G (CUL7)	XP_016867027.1:p.Leu1139Val
XM_017011539.2:c.3388T>G (CUL7)	XP_016867028.1:p.Leu1130Val
NM_001168370.2:c.3484T>G (CUL7)	NP_001161842.2:p.Leu1162Val
NM_001374872.1:c.3484T>G (CUL7)	NP_001361801.1:p.Leu1162Val
NM_001374873.1:c.3388T>G (CUL7)	NP_001361802.1:p.Leu1130Val
NM_001374874.1:c.3385T>G (CUL7)	NP_001361803.1:p.Leu1129Val
NM_014780.5:c.3388T>G (CUL7) MANE Select	NP_055595.2:p.Leu1130Val