Canonical Allele Identifier: CA364228327

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1304401631
• gnomAD v2: 6-43019179-C-G
• gnomAD v4: 6-43051441-C-G
• MyVariant Identifiers: chr6:g.43019179C>G (hg19) ; chr6:g.43051441C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43051441C>G , CM000668.2:g.43051441C>G	GRCh38
NC_000006.11:g.43019179C>G , CM000668.1:g.43019179C>G	GRCh37
NC_000006.10:g.43127157C>G	NCBI36
NG_016205.1:g.7505G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.760G>C (CUL7)	ENSP00000501166.2:p.Val254Leu
ENST00000683160.1:n.1142G>C (CUL7)
ENST00000683493.1:n.801G>C (CUL7)
ENST00000685042.1:c.760G>C (CUL7)	ENSP00000509871.1:p.Val254Leu
ENST00000686442.1:n.1043G>C (CUL7)
ENST00000687225.1:c.856G>C (CUL7)	ENSP00000509364.1:p.Val286Leu
ENST00000688302.1:n.1043G>C (CUL7)
ENST00000688707.1:c.856G>C (CUL7)	ENSP00000510608.1:p.Val286Leu
ENST00000689256.1:n.1059G>C (CUL7)
ENST00000690231.1:c.760G>C (CUL7)	ENSP00000508461.1:p.Val254Leu
ENST00000265348.9:c.760G>C (CUL7) MANE Select	ENSP00000265348.4:p.Val254Leu
ENST00000673753.1:n.1094G>C (CUL7)
ENST00000673761.1:c.1511G>C	ENSP00000501018.1:n.1511G>C
ENST00000674100.1:c.856G>C (CUL7)	ENSP00000501292.1:p.Val286Leu
ENST00000674134.1:c.856G>C (CUL7)	ENSP00000501068.1:p.Val286Leu
ENST00000265348.7:c.760G>C (CUL7)	ENSP00000265348.3:p.Val254Leu
ENST00000467906.5:c.-552-7585C>G (KLC4)	ENSP00000418759.1:n.-552-7585C>G
ENST00000535468.1:c.1012G>C (CUL7)	ENSP00000438788.1:p.Val338Leu
NM_001168370.1:c.1012G>C (CUL7)	NP_001161842.1:p.Val338Leu
NM_014780.4:c.760G>C (CUL7)	NP_055595.2:p.Val254Leu
XM_005249503.1:c.916G>C (CUL7)	XP_005249560.1:p.Val306Leu
XM_006715285.1:c.856G>C (CUL7)	XP_006715348.1:p.Val286Leu
XM_011515019.1:c.1012G>C (CUL7)	XP_011513321.1:p.Val338Leu
XM_011515020.1:c.916G>C (CUL7)	XP_011513322.1:p.Val306Leu
XM_005249503.3:c.916G>C (CUL7)	XP_005249560.1:p.Val306Leu
XM_006715285.2:c.856G>C (CUL7)	XP_006715348.1:p.Val286Leu
XM_011515019.2:c.1012G>C (CUL7)	XP_011513321.1:p.Val338Leu
XM_011515020.2:c.916G>C (CUL7)	XP_011513322.1:p.Val306Leu
XM_017011533.1:c.1012G>C (CUL7)	XP_016867022.1:p.Val338Leu
XM_017011534.1:c.1012G>C (CUL7)	XP_016867023.1:p.Val338Leu
XM_017011535.1:c.916G>C (CUL7)	XP_016867024.1:p.Val306Leu
XM_017011536.2:c.856G>C (CUL7)	XP_016867025.1:p.Val286Leu
XM_017011537.2:c.856G>C (CUL7)	XP_016867026.1:p.Val286Leu
XM_017011538.2:c.760G>C (CUL7)	XP_016867027.1:p.Val254Leu
XM_017011539.2:c.760G>C (CUL7)	XP_016867028.1:p.Val254Leu
XM_017011540.1:c.1012G>C (CUL7)	XP_016867029.1:p.Val338Leu
NM_001168370.2:c.856G>C (CUL7)	NP_001161842.2:p.Val286Leu
NM_001374872.1:c.856G>C (CUL7)	NP_001361801.1:p.Val286Leu
NM_001374873.1:c.760G>C (CUL7)	NP_001361802.1:p.Val254Leu
NM_001374874.1:c.760G>C (CUL7)	NP_001361803.1:p.Val254Leu
NM_014780.5:c.760G>C (CUL7) MANE Select	NP_055595.2:p.Val254Leu