Canonical Allele Identifier: CA364221331

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1320746461
• gnomAD v2: 6-43016298-G-C
• gnomAD v3: 6-43048560-G-C
• gnomAD v4: 6-43048560-G-C
• MyVariant Identifiers: chr6:g.43016298G>C (hg19) ; chr6:g.43048560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048560G>C , CM000668.2:g.43048560G>C	GRCh38
NC_000006.11:g.43016298G>C , CM000668.1:g.43016298G>C	GRCh37
NC_000006.10:g.43124276G>C	NCBI36
NG_016205.1:g.10386C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.1835C>G (CUL7)	ENSP00000501166.2:p.Pro612Arg
ENST00000685042.1:c.1835C>G (CUL7)	ENSP00000509871.1:p.Pro612Arg
ENST00000686442.1:n.2118C>G (CUL7)
ENST00000687225.1:c.1931C>G (CUL7)	ENSP00000509364.1:p.Pro644Arg
ENST00000688302.1:n.2118C>G (CUL7)
ENST00000689256.1:n.2134C>G (CUL7)
ENST00000690231.1:c.1835C>G (CUL7)	ENSP00000508461.1:p.Pro612Arg
ENST00000265348.9:c.1835C>G (CUL7) MANE Select	ENSP00000265348.4:p.Pro612Arg
ENST00000673753.1:n.2169C>G (CUL7)
ENST00000674100.1:c.1931C>G (CUL7)	ENSP00000501292.1:p.Pro644Arg
ENST00000674112.1:c.327C>G (CUL7)
ENST00000674134.1:c.1931C>G (CUL7)	ENSP00000501068.1:p.Pro644Arg
ENST00000265348.7:c.1835C>G (CUL7)	ENSP00000265348.3:p.Pro612Arg
ENST00000467906.5:c.-553+5052G>C (KLC4)	ENSP00000418759.1:n.-553+5052G>C
ENST00000535468.1:c.2087C>G (CUL7)	ENSP00000438788.1:p.Pro696Arg
NM_001168370.1:c.2087C>G (CUL7)	NP_001161842.1:p.Pro696Arg
NM_014780.4:c.1835C>G (CUL7)	NP_055595.2:p.Pro612Arg
XM_005249503.1:c.1991C>G (CUL7)	XP_005249560.1:p.Pro664Arg
XM_006715285.1:c.1931C>G (CUL7)	XP_006715348.1:p.Pro644Arg
XM_011515019.1:c.2087C>G (CUL7)	XP_011513321.1:p.Pro696Arg
XM_011515020.1:c.1991C>G (CUL7)	XP_011513322.1:p.Pro664Arg
XM_011515021.1:c.-348C>G (CUL7)	XP_011513323.1:n.-348C>G
XM_005249503.3:c.1991C>G (CUL7)	XP_005249560.1:p.Pro664Arg
XM_006715285.2:c.1931C>G (CUL7)	XP_006715348.1:p.Pro644Arg
XM_011515019.2:c.2087C>G (CUL7)	XP_011513321.1:p.Pro696Arg
XM_011515020.2:c.1991C>G (CUL7)	XP_011513322.1:p.Pro664Arg
XM_017011533.1:c.2114C>G (CUL7)	XP_016867022.1:p.Pro705Arg
XM_017011534.1:c.2114C>G (CUL7)	XP_016867023.1:p.Pro705Arg
XM_017011535.1:c.2018C>G (CUL7)	XP_016867024.1:p.Pro673Arg
XM_017011536.2:c.1958C>G (CUL7)	XP_016867025.1:p.Pro653Arg
XM_017011537.2:c.1931C>G (CUL7)	XP_016867026.1:p.Pro644Arg
XM_017011538.2:c.1862C>G (CUL7)	XP_016867027.1:p.Pro621Arg
XM_017011539.2:c.1835C>G (CUL7)	XP_016867028.1:p.Pro612Arg
XM_017011540.1:c.2114C>G (CUL7)	XP_016867029.1:p.Pro705Arg
NM_001168370.2:c.1931C>G (CUL7)	NP_001161842.2:p.Pro644Arg
NM_001374872.1:c.1931C>G (CUL7)	NP_001361801.1:p.Pro644Arg
NM_001374873.1:c.1835C>G (CUL7)	NP_001361802.1:p.Pro612Arg
NM_001374874.1:c.1835C>G (CUL7)	NP_001361803.1:p.Pro612Arg
NM_014780.5:c.1835C>G (CUL7) MANE Select	NP_055595.2:p.Pro612Arg