Canonical Allele Identifier: CA3813441

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs201515972
• ExAC: 6:43010574 G / C
• gnomAD v2: 6-43010574-G-C
• gnomAD v3: 6-43042836-G-C
• gnomAD v4: 6-43042836-G-C
• MyVariant Identifiers: chr6:g.43010574G>C (hg19) ; chr6:g.43042836G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042836G>C , CM000668.2:g.43042836G>C	GRCh38
NC_000006.11:g.43010574G>C , CM000668.1:g.43010574G>C	GRCh37
NC_000006.10:g.43118552G>C	NCBI36
NG_016205.1:g.16110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1682C>G (CUL7)
ENST00000674112.2:c.3611C>G (CUL7)	ENSP00000501166.2:p.Ala1204Gly
ENST00000685042.1:c.*267C>G (CUL7)	ENSP00000509871.1:n.*267C>G
ENST00000686442.1:n.4172C>G (CUL7)
ENST00000687225.1:c.*1908C>G (CUL7)	ENSP00000509364.1:n.*1908C>G
ENST00000688302.1:n.3894C>G (CUL7)
ENST00000689256.1:n.4188C>G (CUL7)
ENST00000690231.1:c.3611C>G (CUL7)	ENSP00000508461.1:p.Ala1204Gly
ENST00000265348.9:c.3611C>G (CUL7) MANE Select	ENSP00000265348.4:p.Ala1204Gly
ENST00000673725.1:c.1482C>G (CUL7)
ENST00000673753.1:n.4450C>G (CUL7)
ENST00000674100.1:c.3707C>G (CUL7)	ENSP00000501292.1:p.Ala1236Gly
ENST00000674112.1:c.2103C>G (CUL7)
ENST00000674134.1:c.3707C>G (CUL7)	ENSP00000501068.1:p.Ala1236Gly
ENST00000265348.7:c.3611C>G (CUL7)	ENSP00000265348.3:p.Ala1204Gly
ENST00000467906.5:c.-1003-222G>C (KLC4)	ENSP00000418759.1:n.-1003-222G>C
ENST00000535468.1:c.3863C>G (CUL7)	ENSP00000438788.1:p.Ala1288Gly
NM_001168370.1:c.3863C>G (CUL7)	NP_001161842.1:p.Ala1288Gly
NM_014780.4:c.3611C>G (CUL7)	NP_055595.2:p.Ala1204Gly
XM_005249503.1:c.3767C>G (CUL7)	XP_005249560.1:p.Ala1256Gly
XM_006715285.1:c.3707C>G (CUL7)	XP_006715348.1:p.Ala1236Gly
XM_011515019.1:c.3863C>G (CUL7)	XP_011513321.1:p.Ala1288Gly
XM_011515020.1:c.3767C>G (CUL7)	XP_011513322.1:p.Ala1256Gly
XM_011515021.1:c.1472C>G (CUL7)	XP_011513323.1:p.Ala491Gly
XM_005249503.3:c.3767C>G (CUL7)	XP_005249560.1:p.Ala1256Gly
XM_006715285.2:c.3707C>G (CUL7)	XP_006715348.1:p.Ala1236Gly
XM_011515019.2:c.3863C>G (CUL7)	XP_011513321.1:p.Ala1288Gly
XM_011515020.2:c.3767C>G (CUL7)	XP_011513322.1:p.Ala1256Gly
XM_017011533.1:c.3890C>G (CUL7)	XP_016867022.1:p.Ala1297Gly
XM_017011534.1:c.3890C>G (CUL7)	XP_016867023.1:p.Ala1297Gly
XM_017011535.1:c.3794C>G (CUL7)	XP_016867024.1:p.Ala1265Gly
XM_017011536.2:c.3734C>G (CUL7)	XP_016867025.1:p.Ala1245Gly
XM_017011537.2:c.3707C>G (CUL7)	XP_016867026.1:p.Ala1236Gly
XM_017011538.2:c.3638C>G (CUL7)	XP_016867027.1:p.Ala1213Gly
XM_017011539.2:c.3611C>G (CUL7)	XP_016867028.1:p.Ala1204Gly
NM_001168370.2:c.3707C>G (CUL7)	NP_001161842.2:p.Ala1236Gly
NM_001374872.1:c.3707C>G (CUL7)	NP_001361801.1:p.Ala1236Gly
NM_001374873.1:c.3611C>G (CUL7)	NP_001361802.1:p.Ala1204Gly
NM_001374874.1:c.3608C>G (CUL7)	NP_001361803.1:p.Ala1203Gly
NM_014780.5:c.3611C>G (CUL7) MANE Select	NP_055595.2:p.Ala1204Gly