Canonical Allele Identifier: CA364209021

Linked Data

gnomAD v4: 6-43045325-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43045325C>A , CM000668.2:g.43045325C>A GRCh38
NC_000006.11:g.43013063C>A , CM000668.1:g.43013063C>A GRCh37
NC_000006.10:g.43121041C>A NCBI36
NG_016205.1:g.13621G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000478630.2:n.1011G>T (CUL7)
ENST00000674112.2:c.2940G>T (CUL7) ENSP00000501166.2:p.Gln980His
ENST00000685042.1:c.2940G>T (CUL7) ENSP00000509871.1:p.Gln980His
ENST00000686442.1:n.3501G>T (CUL7)
ENST00000687225.1:c.*1237G>T (CUL7) ENSP00000509364.1:n.*1237G>T
ENST00000688302.1:n.3223G>T (CUL7)
ENST00000689256.1:n.3517G>T (CUL7)
ENST00000690231.1:c.2940G>T (CUL7) ENSP00000508461.1:p.Gln980His
ENST00000265348.9:c.2940G>T (CUL7) MANE Select ENSP00000265348.4:p.Gln980His
ENST00000673725.1:c.889G>T (CUL7)
ENST00000673753.1:n.3779G>T (CUL7)
ENST00000674100.1:c.3036G>T (CUL7) ENSP00000501292.1:p.Gln1012His
ENST00000674112.1:c.1432G>T (CUL7)
ENST00000674134.1:c.3036G>T (CUL7) ENSP00000501068.1:p.Gln1012His
ENST00000265348.7:c.2940G>T (CUL7) ENSP00000265348.3:p.Gln980His
ENST00000467906.5:c.-553+1817C>A (KLC4) ENSP00000418759.1:n.-553+1817C>A
ENST00000535468.1:c.3192G>T (CUL7) ENSP00000438788.1:p.Gln1064His
NM_001168370.1:c.3192G>T (CUL7) NP_001161842.1:p.Gln1064His
NM_014780.4:c.2940G>T (CUL7) NP_055595.2:p.Gln980His
XM_005249503.1:c.3096G>T (CUL7) XP_005249560.1:p.Gln1032His
XM_006715285.1:c.3036G>T (CUL7) XP_006715348.1:p.Gln1012His
XM_011515019.1:c.3192G>T (CUL7) XP_011513321.1:p.Gln1064His
XM_011515020.1:c.3096G>T (CUL7) XP_011513322.1:p.Gln1032His
XM_011515021.1:c.801G>T (CUL7) XP_011513323.1:p.Gln267His
XM_005249503.3:c.3096G>T (CUL7) XP_005249560.1:p.Gln1032His
XM_006715285.2:c.3036G>T (CUL7) XP_006715348.1:p.Gln1012His
XM_011515019.2:c.3192G>T (CUL7) XP_011513321.1:p.Gln1064His
XM_011515020.2:c.3096G>T (CUL7) XP_011513322.1:p.Gln1032His
XM_017011533.1:c.3219G>T (CUL7) XP_016867022.1:p.Gln1073His
XM_017011534.1:c.3219G>T (CUL7) XP_016867023.1:p.Gln1073His
XM_017011535.1:c.3123G>T (CUL7) XP_016867024.1:p.Gln1041His
XM_017011536.2:c.3063G>T (CUL7) XP_016867025.1:p.Gln1021His
XM_017011537.2:c.3036G>T (CUL7) XP_016867026.1:p.Gln1012His
XM_017011538.2:c.2967G>T (CUL7) XP_016867027.1:p.Gln989His
XM_017011539.2:c.2940G>T (CUL7) XP_016867028.1:p.Gln980His
NM_001168370.2:c.3036G>T (CUL7) NP_001161842.2:p.Gln1012His
NM_001374872.1:c.3036G>T (CUL7) NP_001361801.1:p.Gln1012His
NM_001374873.1:c.2940G>T (CUL7) NP_001361802.1:p.Gln980His
NM_001374874.1:c.2940G>T (CUL7) NP_001361803.1:p.Gln980His
NM_014780.5:c.2940G>T (CUL7) MANE Select NP_055595.2:p.Gln980His