Canonical Allele Identifier: CA364228175

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1250847897
• gnomAD v3: 6-43051394-G-C
• gnomAD v4: 6-43051394-G-C
• MyVariant Identifiers: chr6:g.43019132G>C (hg19) ; chr6:g.43051394G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43051394G>C , CM000668.2:g.43051394G>C	GRCh38
NC_000006.11:g.43019132G>C , CM000668.1:g.43019132G>C	GRCh37
NC_000006.10:g.43127110G>C	NCBI36
NG_016205.1:g.7552C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.807C>G (CUL7)	ENSP00000501166.2:p.Asp269Glu
ENST00000683160.1:n.1189C>G (CUL7)
ENST00000683493.1:n.848C>G (CUL7)
ENST00000685042.1:c.807C>G (CUL7)	ENSP00000509871.1:p.Asp269Glu
ENST00000686442.1:n.1090C>G (CUL7)
ENST00000687225.1:c.903C>G (CUL7)	ENSP00000509364.1:p.Asp301Glu
ENST00000688302.1:n.1090C>G (CUL7)
ENST00000688707.1:c.903C>G (CUL7)	ENSP00000510608.1:p.Asp301Glu
ENST00000689256.1:n.1106C>G (CUL7)
ENST00000690231.1:c.807C>G (CUL7)	ENSP00000508461.1:p.Asp269Glu
ENST00000265348.9:c.807C>G (CUL7) MANE Select	ENSP00000265348.4:p.Asp269Glu
ENST00000673753.1:n.1141C>G (CUL7)
ENST00000673761.1:c.1558C>G	ENSP00000501018.1:n.1558C>G
ENST00000674100.1:c.903C>G (CUL7)	ENSP00000501292.1:p.Asp301Glu
ENST00000674134.1:c.903C>G (CUL7)	ENSP00000501068.1:p.Asp301Glu
ENST00000265348.7:c.807C>G (CUL7)	ENSP00000265348.3:p.Asp269Glu
ENST00000467906.5:c.-552-7632G>C (KLC4)	ENSP00000418759.1:n.-552-7632G>C
ENST00000535468.1:c.1059C>G (CUL7)	ENSP00000438788.1:p.Asp353Glu
NM_001168370.1:c.1059C>G (CUL7)	NP_001161842.1:p.Asp353Glu
NM_014780.4:c.807C>G (CUL7)	NP_055595.2:p.Asp269Glu
XM_005249503.1:c.963C>G (CUL7)	XP_005249560.1:p.Asp321Glu
XM_006715285.1:c.903C>G (CUL7)	XP_006715348.1:p.Asp301Glu
XM_011515019.1:c.1059C>G (CUL7)	XP_011513321.1:p.Asp353Glu
XM_011515020.1:c.963C>G (CUL7)	XP_011513322.1:p.Asp321Glu
XM_005249503.3:c.963C>G (CUL7)	XP_005249560.1:p.Asp321Glu
XM_006715285.2:c.903C>G (CUL7)	XP_006715348.1:p.Asp301Glu
XM_011515019.2:c.1059C>G (CUL7)	XP_011513321.1:p.Asp353Glu
XM_011515020.2:c.963C>G (CUL7)	XP_011513322.1:p.Asp321Glu
XM_017011533.1:c.1059C>G (CUL7)	XP_016867022.1:p.Asp353Glu
XM_017011534.1:c.1059C>G (CUL7)	XP_016867023.1:p.Asp353Glu
XM_017011535.1:c.963C>G (CUL7)	XP_016867024.1:p.Asp321Glu
XM_017011536.2:c.903C>G (CUL7)	XP_016867025.1:p.Asp301Glu
XM_017011537.2:c.903C>G (CUL7)	XP_016867026.1:p.Asp301Glu
XM_017011538.2:c.807C>G (CUL7)	XP_016867027.1:p.Asp269Glu
XM_017011539.2:c.807C>G (CUL7)	XP_016867028.1:p.Asp269Glu
XM_017011540.1:c.1059C>G (CUL7)	XP_016867029.1:p.Asp353Glu
NM_001168370.2:c.903C>G (CUL7)	NP_001161842.2:p.Asp301Glu
NM_001374872.1:c.903C>G (CUL7)	NP_001361801.1:p.Asp301Glu
NM_001374873.1:c.807C>G (CUL7)	NP_001361802.1:p.Asp269Glu
NM_001374874.1:c.807C>G (CUL7)	NP_001361803.1:p.Asp269Glu
NM_014780.5:c.807C>G (CUL7) MANE Select	NP_055595.2:p.Asp269Glu