Canonical Allele Identifier: CA2678807594

Linked Data

gnomAD v4: 6-43048051-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43048051C>G , CM000668.2:g.43048051C>G GRCh38
NC_000006.11:g.43015789C>G , CM000668.1:g.43015789C>G GRCh37
NC_000006.10:g.43123767C>G NCBI36
NG_016205.1:g.10895G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000478630.2:n.14-62G>C (CUL7)
ENST00000674112.2:c.2169+97G>C (CUL7) ENSP00000501166.2:n.2169+97G>C
ENST00000685042.1:c.2169+97G>C (CUL7) ENSP00000509871.1:n.2169+97G>C
ENST00000686442.1:n.2452+97G>C (CUL7)
ENST00000687225.1:c.2266-62G>C (CUL7) ENSP00000509364.1:n.2266-62G>C
ENST00000688302.1:n.2452+97G>C (CUL7)
ENST00000689256.1:n.2468+97G>C (CUL7)
ENST00000690231.1:c.2169+97G>C (CUL7) ENSP00000508461.1:n.2169+97G>C
ENST00000265348.9:c.2169+97G>C (CUL7) MANE Select ENSP00000265348.4:n.2169+97G>C
ENST00000673725.1:c.118+97G>C (CUL7)
ENST00000673753.1:n.2504-62G>C (CUL7)
ENST00000674100.1:c.2265+97G>C (CUL7) ENSP00000501292.1:n.2265+97G>C
ENST00000674112.1:c.661+97G>C (CUL7)
ENST00000674134.1:c.2265+97G>C (CUL7) ENSP00000501068.1:n.2265+97G>C
ENST00000265348.7:c.2169+97G>C (CUL7) ENSP00000265348.3:n.2169+97G>C
ENST00000467906.5:c.-553+4543C>G (KLC4) ENSP00000418759.1:n.-553+4543C>G
ENST00000478630.1:n.14-62G>C (CUL7)
ENST00000535468.1:c.2421+97G>C (CUL7) ENSP00000438788.1:n.2421+97G>C
NM_001168370.1:c.2421+97G>C (CUL7) NP_001161842.1:n.2421+97G>C
NM_014780.4:c.2169+97G>C (CUL7) NP_055595.2:n.2169+97G>C
XM_005249503.1:c.2325+97G>C (CUL7) XP_005249560.1:n.2325+97G>C
XM_006715285.1:c.2265+97G>C (CUL7) XP_006715348.1:n.2265+97G>C
XM_011515019.1:c.2421+97G>C (CUL7) XP_011513321.1:n.2421+97G>C
XM_011515020.1:c.2325+97G>C (CUL7) XP_011513322.1:n.2325+97G>C
XM_011515021.1:c.-13-62G>C (CUL7) XP_011513323.1:n.-13-62G>C
XM_005249503.3:c.2325+97G>C (CUL7) XP_005249560.1:n.2325+97G>C
XM_006715285.2:c.2265+97G>C (CUL7) XP_006715348.1:n.2265+97G>C
XM_011515019.2:c.2421+97G>C (CUL7) XP_011513321.1:n.2421+97G>C
XM_011515020.2:c.2325+97G>C (CUL7) XP_011513322.1:n.2325+97G>C
XM_017011533.1:c.2448+97G>C (CUL7) XP_016867022.1:n.2448+97G>C
XM_017011534.1:c.2448+97G>C (CUL7) XP_016867023.1:n.2448+97G>C
XM_017011535.1:c.2352+97G>C (CUL7) XP_016867024.1:n.2352+97G>C
XM_017011536.2:c.2292+97G>C (CUL7) XP_016867025.1:n.2292+97G>C
XM_017011537.2:c.2265+97G>C (CUL7) XP_016867026.1:n.2265+97G>C
XM_017011538.2:c.2196+97G>C (CUL7) XP_016867027.1:n.2196+97G>C
XM_017011539.2:c.2169+97G>C (CUL7) XP_016867028.1:n.2169+97G>C
XM_017011540.1:c.2448+97G>C (CUL7) XP_016867029.1:n.2448+97G>C
NM_001168370.2:c.2265+97G>C (CUL7) NP_001161842.2:n.2265+97G>C
NM_001374872.1:c.2265+97G>C (CUL7) NP_001361801.1:n.2265+97G>C
NM_001374873.1:c.2169+97G>C (CUL7) NP_001361802.1:n.2169+97G>C
NM_001374874.1:c.2169+97G>C (CUL7) NP_001361803.1:n.2169+97G>C
NM_014780.5:c.2169+97G>C (CUL7) MANE Select NP_055595.2:n.2169+97G>C