Canonical Allele Identifier: CA138249290

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 1402727
• ClinVar RCV Id: RCV001906571 ; RCV002555305
• dbSNP Id: rs955472057
• gnomAD v2: 6-43016226-A-G
• gnomAD v4: 6-43048488-A-G
• MyVariant Identifiers: chr6:g.43016226A>G (hg19) ; chr6:g.43048488A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048488A>G , CM000668.2:g.43048488A>G	GRCh38
NC_000006.11:g.43016226A>G , CM000668.1:g.43016226A>G	GRCh37
NC_000006.10:g.43124204A>G	NCBI36
NG_016205.1:g.10458T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.1907T>C (CUL7)	ENSP00000501166.2:p.Leu636Pro
ENST00000685042.1:c.1907T>C (CUL7)	ENSP00000509871.1:p.Leu636Pro
ENST00000686442.1:n.2190T>C (CUL7)
ENST00000687225.1:c.2003T>C (CUL7)	ENSP00000509364.1:p.Leu668Pro
ENST00000688302.1:n.2190T>C (CUL7)
ENST00000689256.1:n.2206T>C (CUL7)
ENST00000690231.1:c.1907T>C (CUL7)	ENSP00000508461.1:p.Leu636Pro
ENST00000265348.9:c.1907T>C (CUL7) MANE Select	ENSP00000265348.4:p.Leu636Pro
ENST00000673753.1:n.2241T>C (CUL7)
ENST00000674100.1:c.2003T>C (CUL7)	ENSP00000501292.1:p.Leu668Pro
ENST00000674112.1:c.399T>C (CUL7)
ENST00000674134.1:c.2003T>C (CUL7)	ENSP00000501068.1:p.Leu668Pro
ENST00000265348.7:c.1907T>C (CUL7)	ENSP00000265348.3:p.Leu636Pro
ENST00000467906.5:c.-553+4980A>G (KLC4)	ENSP00000418759.1:n.-553+4980A>G
ENST00000535468.1:c.2159T>C (CUL7)	ENSP00000438788.1:p.Leu720Pro
NM_001168370.1:c.2159T>C (CUL7)	NP_001161842.1:p.Leu720Pro
NM_014780.4:c.1907T>C (CUL7)	NP_055595.2:p.Leu636Pro
XM_005249503.1:c.2063T>C (CUL7)	XP_005249560.1:p.Leu688Pro
XM_006715285.1:c.2003T>C (CUL7)	XP_006715348.1:p.Leu668Pro
XM_011515019.1:c.2159T>C (CUL7)	XP_011513321.1:p.Leu720Pro
XM_011515020.1:c.2063T>C (CUL7)	XP_011513322.1:p.Leu688Pro
XM_011515021.1:c.-276T>C (CUL7)	XP_011513323.1:n.-276T>C
XM_005249503.3:c.2063T>C (CUL7)	XP_005249560.1:p.Leu688Pro
XM_006715285.2:c.2003T>C (CUL7)	XP_006715348.1:p.Leu668Pro
XM_011515019.2:c.2159T>C (CUL7)	XP_011513321.1:p.Leu720Pro
XM_011515020.2:c.2063T>C (CUL7)	XP_011513322.1:p.Leu688Pro
XM_017011533.1:c.2186T>C (CUL7)	XP_016867022.1:p.Leu729Pro
XM_017011534.1:c.2186T>C (CUL7)	XP_016867023.1:p.Leu729Pro
XM_017011535.1:c.2090T>C (CUL7)	XP_016867024.1:p.Leu697Pro
XM_017011536.2:c.2030T>C (CUL7)	XP_016867025.1:p.Leu677Pro
XM_017011537.2:c.2003T>C (CUL7)	XP_016867026.1:p.Leu668Pro
XM_017011538.2:c.1934T>C (CUL7)	XP_016867027.1:p.Leu645Pro
XM_017011539.2:c.1907T>C (CUL7)	XP_016867028.1:p.Leu636Pro
XM_017011540.1:c.2186T>C (CUL7)	XP_016867029.1:p.Leu729Pro
NM_001168370.2:c.2003T>C (CUL7)	NP_001161842.2:p.Leu668Pro
NM_001374872.1:c.2003T>C (CUL7)	NP_001361801.1:p.Leu668Pro
NM_001374873.1:c.1907T>C (CUL7)	NP_001361802.1:p.Leu636Pro
NM_001374874.1:c.1907T>C (CUL7)	NP_001361803.1:p.Leu636Pro
NM_014780.5:c.1907T>C (CUL7) MANE Select	NP_055595.2:p.Leu636Pro