Canonical Allele Identifier: CA450369634

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1417272122
• gnomAD v2: 6-43010651-A-G
• gnomAD v4: 6-43042913-A-G
• MyVariant Identifiers: chr6:g.43010651A>G (hg19) ; chr6:g.43042913A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042913A>G , CM000668.2:g.43042913A>G	GRCh38
NC_000006.11:g.43010651A>G , CM000668.1:g.43010651A>G	GRCh37
NC_000006.10:g.43118629A>G	NCBI36
NG_016205.1:g.16033T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1605T>C (CUL7)
ENST00000674112.2:c.3534T>C (CUL7)	ENSP00000501166.2:p.Ile1178=
ENST00000685042.1:c.*190T>C (CUL7)	ENSP00000509871.1:n.*190T>C
ENST00000686442.1:n.4095T>C (CUL7)
ENST00000687225.1:c.*1831T>C (CUL7)	ENSP00000509364.1:n.*1831T>C
ENST00000688302.1:n.3817T>C (CUL7)
ENST00000689256.1:n.4111T>C (CUL7)
ENST00000690231.1:c.3534T>C (CUL7)	ENSP00000508461.1:p.Ile1178=
ENST00000265348.9:c.3534T>C (CUL7) MANE Select	ENSP00000265348.4:p.Ile1178=
ENST00000673725.1:c.1412-7T>C (CUL7)
ENST00000673753.1:n.4373T>C (CUL7)
ENST00000674100.1:c.3630T>C (CUL7)	ENSP00000501292.1:p.Ile1210=
ENST00000674112.1:c.2026T>C (CUL7)
ENST00000674134.1:c.3630T>C (CUL7)	ENSP00000501068.1:p.Ile1210=
ENST00000265348.7:c.3534T>C (CUL7)	ENSP00000265348.3:p.Ile1178=
ENST00000467906.5:c.-1003-145A>G (KLC4)	ENSP00000418759.1:n.-1003-145A>G
ENST00000535468.1:c.3786T>C (CUL7)	ENSP00000438788.1:p.Ile1262=
NM_001168370.1:c.3786T>C (CUL7)	NP_001161842.1:p.Ile1262=
NM_014780.4:c.3534T>C (CUL7)	NP_055595.2:p.Ile1178=
XM_005249503.1:c.3690T>C (CUL7)	XP_005249560.1:p.Ile1230=
XM_006715285.1:c.3630T>C (CUL7)	XP_006715348.1:p.Ile1210=
XM_011515019.1:c.3786T>C (CUL7)	XP_011513321.1:p.Ile1262=
XM_011515020.1:c.3690T>C (CUL7)	XP_011513322.1:p.Ile1230=
XM_011515021.1:c.1395T>C (CUL7)	XP_011513323.1:p.Ile465=
XM_005249503.3:c.3690T>C (CUL7)	XP_005249560.1:p.Ile1230=
XM_006715285.2:c.3630T>C (CUL7)	XP_006715348.1:p.Ile1210=
XM_011515019.2:c.3786T>C (CUL7)	XP_011513321.1:p.Ile1262=
XM_011515020.2:c.3690T>C (CUL7)	XP_011513322.1:p.Ile1230=
XM_017011533.1:c.3813T>C (CUL7)	XP_016867022.1:p.Ile1271=
XM_017011534.1:c.3813T>C (CUL7)	XP_016867023.1:p.Ile1271=
XM_017011535.1:c.3717T>C (CUL7)	XP_016867024.1:p.Ile1239=
XM_017011536.2:c.3657T>C (CUL7)	XP_016867025.1:p.Ile1219=
XM_017011537.2:c.3630T>C (CUL7)	XP_016867026.1:p.Ile1210=
XM_017011538.2:c.3561T>C (CUL7)	XP_016867027.1:p.Ile1187=
XM_017011539.2:c.3534T>C (CUL7)	XP_016867028.1:p.Ile1178=
NM_001168370.2:c.3630T>C (CUL7)	NP_001161842.2:p.Ile1210=
NM_001374872.1:c.3630T>C (CUL7)	NP_001361801.1:p.Ile1210=
NM_001374873.1:c.3534T>C (CUL7)	NP_001361802.1:p.Ile1178=
NM_001374874.1:c.3531T>C (CUL7)	NP_001361803.1:p.Ile1177=
NM_014780.5:c.3534T>C (CUL7) MANE Select	NP_055595.2:p.Ile1178=