Canonical Allele Identifier: CA275038

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 194657
• ClinVar RCV Id: RCV002509281
• dbSNP Id: rs61752334
• ExAC: 6:43012621 A / C
• gnomAD v2: 6-43012621-A-C
• gnomAD v3: 6-43044883-A-C
• gnomAD v4: 6-43044883-A-C
• MyVariant Identifiers: chr6:g.43012621A>C (hg19) ; chr6:g.43044883A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43044883A>C , CM000668.2:g.43044883A>C	GRCh38
NC_000006.11:g.43012621A>C , CM000668.1:g.43012621A>C	GRCh37
NC_000006.10:g.43120599A>C	NCBI36
NG_016205.1:g.14063T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478630.2:n.1112T>G (CUL7)
ENST00000674112.2:c.3041T>G (CUL7)	ENSP00000501166.2:p.Leu1014Arg
ENST00000685042.1:c.3041T>G (CUL7)	ENSP00000509871.1:p.Leu1014Arg
ENST00000686442.1:n.3602T>G (CUL7)
ENST00000687225.1:c.*1338T>G (CUL7)	ENSP00000509364.1:n.*1338T>G
ENST00000688302.1:n.3324T>G (CUL7)
ENST00000689256.1:n.3618T>G (CUL7)
ENST00000690231.1:c.3041T>G (CUL7)	ENSP00000508461.1:p.Leu1014Arg
ENST00000265348.9:c.3041T>G (CUL7) MANE Select	ENSP00000265348.4:p.Leu1014Arg
ENST00000673725.1:c.990T>G (CUL7)
ENST00000673753.1:n.3880T>G (CUL7)
ENST00000674100.1:c.3137T>G (CUL7)	ENSP00000501292.1:p.Leu1046Arg
ENST00000674112.1:c.1533T>G (CUL7)
ENST00000674134.1:c.3137T>G (CUL7)	ENSP00000501068.1:p.Leu1046Arg
ENST00000265348.7:c.3041T>G (CUL7)	ENSP00000265348.3:p.Leu1014Arg
ENST00000467906.5:c.-553+1375A>C (KLC4)	ENSP00000418759.1:n.-553+1375A>C
ENST00000535468.1:c.3293T>G (CUL7)	ENSP00000438788.1:p.Leu1098Arg
NM_001168370.1:c.3293T>G (CUL7)	NP_001161842.1:p.Leu1098Arg
NM_014780.4:c.3041T>G (CUL7)	NP_055595.2:p.Leu1014Arg
XM_005249503.1:c.3197T>G (CUL7)	XP_005249560.1:p.Leu1066Arg
XM_006715285.1:c.3137T>G (CUL7)	XP_006715348.1:p.Leu1046Arg
XM_011515019.1:c.3293T>G (CUL7)	XP_011513321.1:p.Leu1098Arg
XM_011515020.1:c.3197T>G (CUL7)	XP_011513322.1:p.Leu1066Arg
XM_011515021.1:c.902T>G (CUL7)	XP_011513323.1:p.Leu301Arg
XM_005249503.3:c.3197T>G (CUL7)	XP_005249560.1:p.Leu1066Arg
XM_006715285.2:c.3137T>G (CUL7)	XP_006715348.1:p.Leu1046Arg
XM_011515019.2:c.3293T>G (CUL7)	XP_011513321.1:p.Leu1098Arg
XM_011515020.2:c.3197T>G (CUL7)	XP_011513322.1:p.Leu1066Arg
XM_017011533.1:c.3320T>G (CUL7)	XP_016867022.1:p.Leu1107Arg
XM_017011534.1:c.3320T>G (CUL7)	XP_016867023.1:p.Leu1107Arg
XM_017011535.1:c.3224T>G (CUL7)	XP_016867024.1:p.Leu1075Arg
XM_017011536.2:c.3164T>G (CUL7)	XP_016867025.1:p.Leu1055Arg
XM_017011537.2:c.3137T>G (CUL7)	XP_016867026.1:p.Leu1046Arg
XM_017011538.2:c.3068T>G (CUL7)	XP_016867027.1:p.Leu1023Arg
XM_017011539.2:c.3041T>G (CUL7)	XP_016867028.1:p.Leu1014Arg
NM_001168370.2:c.3137T>G (CUL7)	NP_001161842.2:p.Leu1046Arg
NM_001374872.1:c.3137T>G (CUL7)	NP_001361801.1:p.Leu1046Arg
NM_001374873.1:c.3041T>G (CUL7)	NP_001361802.1:p.Leu1014Arg
NM_001374874.1:c.3041T>G (CUL7)	NP_001361803.1:p.Leu1014Arg
NM_014780.5:c.3041T>G (CUL7) MANE Select	NP_055595.2:p.Leu1014Arg