Canonical Allele Identifier: CA364203062

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1285599988
• gnomAD v2: 6-43010692-C-G
• gnomAD v4: 6-43042954-C-G
• MyVariant Identifiers: chr6:g.43010692C>G (hg19) ; chr6:g.43042954C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042954C>G , CM000668.2:g.43042954C>G	GRCh38
NC_000006.11:g.43010692C>G , CM000668.1:g.43010692C>G	GRCh37
NC_000006.10:g.43118670C>G	NCBI36
NG_016205.1:g.15992G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1564G>C (CUL7)
ENST00000674112.2:c.3493G>C (CUL7)	ENSP00000501166.2:p.Asp1165His
ENST00000685042.1:c.*149G>C (CUL7)	ENSP00000509871.1:n.*149G>C
ENST00000686442.1:n.4054G>C (CUL7)
ENST00000687225.1:c.*1790G>C (CUL7)	ENSP00000509364.1:n.*1790G>C
ENST00000688302.1:n.3776G>C (CUL7)
ENST00000689256.1:n.4070G>C (CUL7)
ENST00000690231.1:c.3493G>C (CUL7)	ENSP00000508461.1:p.Asp1165His
ENST00000265348.9:c.3493G>C (CUL7) MANE Select	ENSP00000265348.4:p.Asp1165His
ENST00000673725.1:c.1412-48G>C (CUL7)
ENST00000673753.1:n.4332G>C (CUL7)
ENST00000674100.1:c.3589G>C (CUL7)	ENSP00000501292.1:p.Asp1197His
ENST00000674112.1:c.1985G>C (CUL7)
ENST00000674134.1:c.3589G>C (CUL7)	ENSP00000501068.1:p.Asp1197His
ENST00000265348.7:c.3493G>C (CUL7)	ENSP00000265348.3:p.Asp1165His
ENST00000467906.5:c.-1003-104C>G (KLC4)	ENSP00000418759.1:n.-1003-104C>G
ENST00000535468.1:c.3745G>C (CUL7)	ENSP00000438788.1:p.Asp1249His
NM_001168370.1:c.3745G>C (CUL7)	NP_001161842.1:p.Asp1249His
NM_014780.4:c.3493G>C (CUL7)	NP_055595.2:p.Asp1165His
XM_005249503.1:c.3649G>C (CUL7)	XP_005249560.1:p.Asp1217His
XM_006715285.1:c.3589G>C (CUL7)	XP_006715348.1:p.Asp1197His
XM_011515019.1:c.3745G>C (CUL7)	XP_011513321.1:p.Asp1249His
XM_011515020.1:c.3649G>C (CUL7)	XP_011513322.1:p.Asp1217His
XM_011515021.1:c.1354G>C (CUL7)	XP_011513323.1:p.Asp452His
XM_005249503.3:c.3649G>C (CUL7)	XP_005249560.1:p.Asp1217His
XM_006715285.2:c.3589G>C (CUL7)	XP_006715348.1:p.Asp1197His
XM_011515019.2:c.3745G>C (CUL7)	XP_011513321.1:p.Asp1249His
XM_011515020.2:c.3649G>C (CUL7)	XP_011513322.1:p.Asp1217His
XM_017011533.1:c.3772G>C (CUL7)	XP_016867022.1:p.Asp1258His
XM_017011534.1:c.3772G>C (CUL7)	XP_016867023.1:p.Asp1258His
XM_017011535.1:c.3676G>C (CUL7)	XP_016867024.1:p.Asp1226His
XM_017011536.2:c.3616G>C (CUL7)	XP_016867025.1:p.Asp1206His
XM_017011537.2:c.3589G>C (CUL7)	XP_016867026.1:p.Asp1197His
XM_017011538.2:c.3520G>C (CUL7)	XP_016867027.1:p.Asp1174His
XM_017011539.2:c.3493G>C (CUL7)	XP_016867028.1:p.Asp1165His
NM_001168370.2:c.3589G>C (CUL7)	NP_001161842.2:p.Asp1197His
NM_001374872.1:c.3589G>C (CUL7)	NP_001361801.1:p.Asp1197His
NM_001374873.1:c.3493G>C (CUL7)	NP_001361802.1:p.Asp1165His
NM_001374874.1:c.3490G>C (CUL7)	NP_001361803.1:p.Asp1164His
NM_014780.5:c.3493G>C (CUL7) MANE Select	NP_055595.2:p.Asp1165His