Canonical Allele Identifier: CA3813493

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs749170287
• ExAC: 6:43010847 G / C
• gnomAD v2: 6-43010847-G-C
• gnomAD v4: 6-43043109-G-C
• MyVariant Identifiers: chr6:g.43010847G>C (hg19) ; chr6:g.43043109G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43043109G>C , CM000668.2:g.43043109G>C	GRCh38
NC_000006.11:g.43010847G>C , CM000668.1:g.43010847G>C	GRCh37
NC_000006.10:g.43118825G>C	NCBI36
NG_016205.1:g.15837C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478630.2:n.1498C>G (CUL7)
ENST00000674112.2:c.3427C>G (CUL7)	ENSP00000501166.2:p.Leu1143Val
ENST00000685042.1:c.*83C>G (CUL7)	ENSP00000509871.1:n.*83C>G
ENST00000686442.1:n.3988C>G (CUL7)
ENST00000687225.1:c.*1724C>G (CUL7)	ENSP00000509364.1:n.*1724C>G
ENST00000688302.1:n.3710C>G (CUL7)
ENST00000689256.1:n.4004C>G (CUL7)
ENST00000690231.1:c.3427C>G (CUL7)	ENSP00000508461.1:p.Leu1143Val
ENST00000265348.9:c.3427C>G (CUL7) MANE Select	ENSP00000265348.4:p.Leu1143Val
ENST00000673725.1:c.1376C>G (CUL7)
ENST00000673753.1:n.4266C>G (CUL7)
ENST00000674100.1:c.3523C>G (CUL7)	ENSP00000501292.1:p.Leu1175Val
ENST00000674112.1:c.1919C>G (CUL7)
ENST00000674134.1:c.3523C>G (CUL7)	ENSP00000501068.1:p.Leu1175Val
ENST00000265348.7:c.3427C>G (CUL7)	ENSP00000265348.3:p.Leu1143Val
ENST00000467906.5:c.-952G>C (KLC4)	ENSP00000418759.1:n.-952G>C
ENST00000535468.1:c.3679C>G (CUL7)	ENSP00000438788.1:p.Leu1227Val
NM_001168370.1:c.3679C>G (CUL7)	NP_001161842.1:p.Leu1227Val
NM_014780.4:c.3427C>G (CUL7)	NP_055595.2:p.Leu1143Val
XM_005249503.1:c.3583C>G (CUL7)	XP_005249560.1:p.Leu1195Val
XM_006715285.1:c.3523C>G (CUL7)	XP_006715348.1:p.Leu1175Val
XM_011515019.1:c.3679C>G (CUL7)	XP_011513321.1:p.Leu1227Val
XM_011515020.1:c.3583C>G (CUL7)	XP_011513322.1:p.Leu1195Val
XM_011515021.1:c.1288C>G (CUL7)	XP_011513323.1:p.Leu430Val
XM_005249503.3:c.3583C>G (CUL7)	XP_005249560.1:p.Leu1195Val
XM_006715285.2:c.3523C>G (CUL7)	XP_006715348.1:p.Leu1175Val
XM_011515019.2:c.3679C>G (CUL7)	XP_011513321.1:p.Leu1227Val
XM_011515020.2:c.3583C>G (CUL7)	XP_011513322.1:p.Leu1195Val
XM_017011533.1:c.3706C>G (CUL7)	XP_016867022.1:p.Leu1236Val
XM_017011534.1:c.3706C>G (CUL7)	XP_016867023.1:p.Leu1236Val
XM_017011535.1:c.3610C>G (CUL7)	XP_016867024.1:p.Leu1204Val
XM_017011536.2:c.3550C>G (CUL7)	XP_016867025.1:p.Leu1184Val
XM_017011537.2:c.3523C>G (CUL7)	XP_016867026.1:p.Leu1175Val
XM_017011538.2:c.3454C>G (CUL7)	XP_016867027.1:p.Leu1152Val
XM_017011539.2:c.3427C>G (CUL7)	XP_016867028.1:p.Leu1143Val
NM_001168370.2:c.3523C>G (CUL7)	NP_001161842.2:p.Leu1175Val
NM_001374872.1:c.3523C>G (CUL7)	NP_001361801.1:p.Leu1175Val
NM_001374873.1:c.3427C>G (CUL7)	NP_001361802.1:p.Leu1143Val
NM_001374874.1:c.3424C>G (CUL7)	NP_001361803.1:p.Leu1142Val
NM_014780.5:c.3427C>G (CUL7) MANE Select	NP_055595.2:p.Leu1143Val