Canonical Allele Identifier: CA3813985

Linked Data

ClinVar Variation Id: 356843
dbSNP Id: rs143128153
gnomAD v2: 6-43015940-G-A
gnomAD v3: 6-43048202-G-A
gnomAD v4: 6-43048202-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43048202G>A , CM000668.2:g.43048202G>A GRCh38
NC_000006.11:g.43015940G>A , CM000668.1:g.43015940G>A GRCh37
NC_000006.10:g.43123918G>A NCBI36
NG_016205.1:g.10744C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000674112.2:c.2115C>T (CUL7) ENSP00000501166.2:p.His705=
ENST00000685042.1:c.2115C>T (CUL7) ENSP00000509871.1:p.His705=
ENST00000686442.1:n.2398C>T (CUL7)
ENST00000687225.1:c.2211C>T (CUL7) ENSP00000509364.1:p.His737=
ENST00000688302.1:n.2398C>T (CUL7)
ENST00000689256.1:n.2414C>T (CUL7)
ENST00000690231.1:c.2115C>T (CUL7) ENSP00000508461.1:p.His705=
ENST00000265348.9:c.2115C>T (CUL7) MANE Select ENSP00000265348.4:p.His705=
ENST00000673725.1:c.64C>T (CUL7)
ENST00000673753.1:n.2449C>T (CUL7)
ENST00000674100.1:c.2211C>T (CUL7) ENSP00000501292.1:p.His737=
ENST00000674112.1:c.607C>T (CUL7)
ENST00000674134.1:c.2211C>T (CUL7) ENSP00000501068.1:p.His737=
ENST00000265348.7:c.2115C>T (CUL7) ENSP00000265348.3:p.His705=
ENST00000467906.5:c.-553+4694G>A (KLC4) ENSP00000418759.1:n.-553+4694G>A
ENST00000535468.1:c.2367C>T (CUL7) ENSP00000438788.1:p.His789=
NM_001168370.1:c.2367C>T (CUL7) NP_001161842.1:p.His789=
NM_014780.4:c.2115C>T (CUL7) NP_055595.2:p.His705=
XM_005249503.1:c.2271C>T (CUL7) XP_005249560.1:p.His757=
XM_006715285.1:c.2211C>T (CUL7) XP_006715348.1:p.His737=
XM_011515019.1:c.2367C>T (CUL7) XP_011513321.1:p.His789=
XM_011515020.1:c.2271C>T (CUL7) XP_011513322.1:p.His757=
XM_011515021.1:c.-68C>T (CUL7) XP_011513323.1:n.-68C>T
XM_005249503.3:c.2271C>T (CUL7) XP_005249560.1:p.His757=
XM_006715285.2:c.2211C>T (CUL7) XP_006715348.1:p.His737=
XM_011515019.2:c.2367C>T (CUL7) XP_011513321.1:p.His789=
XM_011515020.2:c.2271C>T (CUL7) XP_011513322.1:p.His757=
XM_017011533.1:c.2394C>T (CUL7) XP_016867022.1:p.His798=
XM_017011534.1:c.2394C>T (CUL7) XP_016867023.1:p.His798=
XM_017011535.1:c.2298C>T (CUL7) XP_016867024.1:p.His766=
XM_017011536.2:c.2238C>T (CUL7) XP_016867025.1:p.His746=
XM_017011537.2:c.2211C>T (CUL7) XP_016867026.1:p.His737=
XM_017011538.2:c.2142C>T (CUL7) XP_016867027.1:p.His714=
XM_017011539.2:c.2115C>T (CUL7) XP_016867028.1:p.His705=
XM_017011540.1:c.2394C>T (CUL7) XP_016867029.1:p.His798=
NM_001168370.2:c.2211C>T (CUL7) NP_001161842.2:p.His737=
NM_001374872.1:c.2211C>T (CUL7) NP_001361801.1:p.His737=
NM_001374873.1:c.2115C>T (CUL7) NP_001361802.1:p.His705=
NM_001374874.1:c.2115C>T (CUL7) NP_001361803.1:p.His705=
NM_014780.5:c.2115C>T (CUL7) MANE Select NP_055595.2:p.His705=