Canonical Allele Identifier: CA3813447

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 2970467
• ClinVar RCV Id: RCV003830121
• dbSNP Id: rs754383585
• ExAC: 6:43010612 T / G
• gnomAD v2: 6-43010612-T-G
• gnomAD v4: 6-43042874-T-G
• MyVariant Identifiers: chr6:g.43010612T>G (hg19) ; chr6:g.43042874T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042874T>G , CM000668.2:g.43042874T>G	GRCh38
NC_000006.11:g.43010612T>G , CM000668.1:g.43010612T>G	GRCh37
NC_000006.10:g.43118590T>G	NCBI36
NG_016205.1:g.16072A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478630.2:n.1644A>C (CUL7)
ENST00000674112.2:c.3573A>C (CUL7)	ENSP00000501166.2:p.Ala1191=
ENST00000685042.1:c.*229A>C (CUL7)	ENSP00000509871.1:n.*229A>C
ENST00000686442.1:n.4134A>C (CUL7)
ENST00000687225.1:c.*1870A>C (CUL7)	ENSP00000509364.1:n.*1870A>C
ENST00000688302.1:n.3856A>C (CUL7)
ENST00000689256.1:n.4150A>C (CUL7)
ENST00000690231.1:c.3573A>C (CUL7)	ENSP00000508461.1:p.Ala1191=
ENST00000265348.9:c.3573A>C (CUL7) MANE Select	ENSP00000265348.4:p.Ala1191=
ENST00000673725.1:c.1444A>C (CUL7)
ENST00000673753.1:n.4412A>C (CUL7)
ENST00000674100.1:c.3669A>C (CUL7)	ENSP00000501292.1:p.Ala1223=
ENST00000674112.1:c.2065A>C (CUL7)
ENST00000674134.1:c.3669A>C (CUL7)	ENSP00000501068.1:p.Ala1223=
ENST00000265348.7:c.3573A>C (CUL7)	ENSP00000265348.3:p.Ala1191=
ENST00000467906.5:c.-1003-184T>G (KLC4)	ENSP00000418759.1:n.-1003-184T>G
ENST00000535468.1:c.3825A>C (CUL7)	ENSP00000438788.1:p.Ala1275=
NM_001168370.1:c.3825A>C (CUL7)	NP_001161842.1:p.Ala1275=
NM_014780.4:c.3573A>C (CUL7)	NP_055595.2:p.Ala1191=
XM_005249503.1:c.3729A>C (CUL7)	XP_005249560.1:p.Ala1243=
XM_006715285.1:c.3669A>C (CUL7)	XP_006715348.1:p.Ala1223=
XM_011515019.1:c.3825A>C (CUL7)	XP_011513321.1:p.Ala1275=
XM_011515020.1:c.3729A>C (CUL7)	XP_011513322.1:p.Ala1243=
XM_011515021.1:c.1434A>C (CUL7)	XP_011513323.1:p.Ala478=
XM_005249503.3:c.3729A>C (CUL7)	XP_005249560.1:p.Ala1243=
XM_006715285.2:c.3669A>C (CUL7)	XP_006715348.1:p.Ala1223=
XM_011515019.2:c.3825A>C (CUL7)	XP_011513321.1:p.Ala1275=
XM_011515020.2:c.3729A>C (CUL7)	XP_011513322.1:p.Ala1243=
XM_017011533.1:c.3852A>C (CUL7)	XP_016867022.1:p.Ala1284=
XM_017011534.1:c.3852A>C (CUL7)	XP_016867023.1:p.Ala1284=
XM_017011535.1:c.3756A>C (CUL7)	XP_016867024.1:p.Ala1252=
XM_017011536.2:c.3696A>C (CUL7)	XP_016867025.1:p.Ala1232=
XM_017011537.2:c.3669A>C (CUL7)	XP_016867026.1:p.Ala1223=
XM_017011538.2:c.3600A>C (CUL7)	XP_016867027.1:p.Ala1200=
XM_017011539.2:c.3573A>C (CUL7)	XP_016867028.1:p.Ala1191=
NM_001168370.2:c.3669A>C (CUL7)	NP_001161842.2:p.Ala1223=
NM_001374872.1:c.3669A>C (CUL7)	NP_001361801.1:p.Ala1223=
NM_001374873.1:c.3573A>C (CUL7)	NP_001361802.1:p.Ala1191=
NM_001374874.1:c.3570A>C (CUL7)	NP_001361803.1:p.Ala1190=
NM_014780.5:c.3573A>C (CUL7) MANE Select	NP_055595.2:p.Ala1191=