Canonical Allele Identifier: CA364228256

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1764399924
• gnomAD v3: 6-43051419-G-A
• gnomAD v4: 6-43051419-G-A
• MyVariant Identifiers: chr6:g.43019157G>A (hg19) ; chr6:g.43051419G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43051419G>A , CM000668.2:g.43051419G>A	GRCh38
NC_000006.11:g.43019157G>A , CM000668.1:g.43019157G>A	GRCh37
NC_000006.10:g.43127135G>A	NCBI36
NG_016205.1:g.7527C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.782C>T (CUL7)	ENSP00000501166.2:p.Thr261Ile
ENST00000683160.1:n.1164C>T (CUL7)
ENST00000683493.1:n.823C>T (CUL7)
ENST00000685042.1:c.782C>T (CUL7)	ENSP00000509871.1:p.Thr261Ile
ENST00000686442.1:n.1065C>T (CUL7)
ENST00000687225.1:c.878C>T (CUL7)	ENSP00000509364.1:p.Thr293Ile
ENST00000688302.1:n.1065C>T (CUL7)
ENST00000688707.1:c.878C>T (CUL7)	ENSP00000510608.1:p.Thr293Ile
ENST00000689256.1:n.1081C>T (CUL7)
ENST00000690231.1:c.782C>T (CUL7)	ENSP00000508461.1:p.Thr261Ile
ENST00000265348.9:c.782C>T (CUL7) MANE Select	ENSP00000265348.4:p.Thr261Ile
ENST00000673753.1:n.1116C>T (CUL7)
ENST00000673761.1:c.1533C>T	ENSP00000501018.1:n.1533C>T
ENST00000674100.1:c.878C>T (CUL7)	ENSP00000501292.1:p.Thr293Ile
ENST00000674134.1:c.878C>T (CUL7)	ENSP00000501068.1:p.Thr293Ile
ENST00000265348.7:c.782C>T (CUL7)	ENSP00000265348.3:p.Thr261Ile
ENST00000467906.5:c.-552-7607G>A (KLC4)	ENSP00000418759.1:n.-552-7607G>A
ENST00000535468.1:c.1034C>T (CUL7)	ENSP00000438788.1:p.Thr345Ile
NM_001168370.1:c.1034C>T (CUL7)	NP_001161842.1:p.Thr345Ile
NM_014780.4:c.782C>T (CUL7)	NP_055595.2:p.Thr261Ile
XM_005249503.1:c.938C>T (CUL7)	XP_005249560.1:p.Thr313Ile
XM_006715285.1:c.878C>T (CUL7)	XP_006715348.1:p.Thr293Ile
XM_011515019.1:c.1034C>T (CUL7)	XP_011513321.1:p.Thr345Ile
XM_011515020.1:c.938C>T (CUL7)	XP_011513322.1:p.Thr313Ile
XM_005249503.3:c.938C>T (CUL7)	XP_005249560.1:p.Thr313Ile
XM_006715285.2:c.878C>T (CUL7)	XP_006715348.1:p.Thr293Ile
XM_011515019.2:c.1034C>T (CUL7)	XP_011513321.1:p.Thr345Ile
XM_011515020.2:c.938C>T (CUL7)	XP_011513322.1:p.Thr313Ile
XM_017011533.1:c.1034C>T (CUL7)	XP_016867022.1:p.Thr345Ile
XM_017011534.1:c.1034C>T (CUL7)	XP_016867023.1:p.Thr345Ile
XM_017011535.1:c.938C>T (CUL7)	XP_016867024.1:p.Thr313Ile
XM_017011536.2:c.878C>T (CUL7)	XP_016867025.1:p.Thr293Ile
XM_017011537.2:c.878C>T (CUL7)	XP_016867026.1:p.Thr293Ile
XM_017011538.2:c.782C>T (CUL7)	XP_016867027.1:p.Thr261Ile
XM_017011539.2:c.782C>T (CUL7)	XP_016867028.1:p.Thr261Ile
XM_017011540.1:c.1034C>T (CUL7)	XP_016867029.1:p.Thr345Ile
NM_001168370.2:c.878C>T (CUL7)	NP_001161842.2:p.Thr293Ile
NM_001374872.1:c.878C>T (CUL7)	NP_001361801.1:p.Thr293Ile
NM_001374873.1:c.782C>T (CUL7)	NP_001361802.1:p.Thr261Ile
NM_001374874.1:c.782C>T (CUL7)	NP_001361803.1:p.Thr261Ile
NM_014780.5:c.782C>T (CUL7) MANE Select	NP_055595.2:p.Thr261Ile