Canonical Allele Identifier: CA364218240

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1764076788
• gnomAD v3: 6-43048175-G-T
• gnomAD v4: 6-43048175-G-T
• MyVariant Identifiers: chr6:g.43015913G>T (hg19) ; chr6:g.43048175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048175G>T , CM000668.2:g.43048175G>T	GRCh38
NC_000006.11:g.43015913G>T , CM000668.1:g.43015913G>T	GRCh37
NC_000006.10:g.43123891G>T	NCBI36
NG_016205.1:g.10771C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.2142C>A (CUL7)	ENSP00000501166.2:p.Cys714Ter
ENST00000685042.1:c.2142C>A (CUL7)	ENSP00000509871.1:p.Cys714Ter
ENST00000686442.1:n.2425C>A (CUL7)
ENST00000687225.1:c.2238C>A (CUL7)	ENSP00000509364.1:p.Cys746Ter
ENST00000688302.1:n.2425C>A (CUL7)
ENST00000689256.1:n.2441C>A (CUL7)
ENST00000690231.1:c.2142C>A (CUL7)	ENSP00000508461.1:p.Cys714Ter
ENST00000265348.9:c.2142C>A (CUL7) MANE Select	ENSP00000265348.4:p.Cys714Ter
ENST00000673725.1:c.91C>A (CUL7)
ENST00000673753.1:n.2476C>A (CUL7)
ENST00000674100.1:c.2238C>A (CUL7)	ENSP00000501292.1:p.Cys746Ter
ENST00000674112.1:c.634C>A (CUL7)
ENST00000674134.1:c.2238C>A (CUL7)	ENSP00000501068.1:p.Cys746Ter
ENST00000265348.7:c.2142C>A (CUL7)	ENSP00000265348.3:p.Cys714Ter
ENST00000467906.5:c.-553+4667G>T (KLC4)	ENSP00000418759.1:n.-553+4667G>T
ENST00000535468.1:c.2394C>A (CUL7)	ENSP00000438788.1:p.Cys798Ter
NM_001168370.1:c.2394C>A (CUL7)	NP_001161842.1:p.Cys798Ter
NM_014780.4:c.2142C>A (CUL7)	NP_055595.2:p.Cys714Ter
XM_005249503.1:c.2298C>A (CUL7)	XP_005249560.1:p.Cys766Ter
XM_006715285.1:c.2238C>A (CUL7)	XP_006715348.1:p.Cys746Ter
XM_011515019.1:c.2394C>A (CUL7)	XP_011513321.1:p.Cys798Ter
XM_011515020.1:c.2298C>A (CUL7)	XP_011513322.1:p.Cys766Ter
XM_011515021.1:c.-41C>A (CUL7)	XP_011513323.1:n.-41C>A
XM_005249503.3:c.2298C>A (CUL7)	XP_005249560.1:p.Cys766Ter
XM_006715285.2:c.2238C>A (CUL7)	XP_006715348.1:p.Cys746Ter
XM_011515019.2:c.2394C>A (CUL7)	XP_011513321.1:p.Cys798Ter
XM_011515020.2:c.2298C>A (CUL7)	XP_011513322.1:p.Cys766Ter
XM_017011533.1:c.2421C>A (CUL7)	XP_016867022.1:p.Cys807Ter
XM_017011534.1:c.2421C>A (CUL7)	XP_016867023.1:p.Cys807Ter
XM_017011535.1:c.2325C>A (CUL7)	XP_016867024.1:p.Cys775Ter
XM_017011536.2:c.2265C>A (CUL7)	XP_016867025.1:p.Cys755Ter
XM_017011537.2:c.2238C>A (CUL7)	XP_016867026.1:p.Cys746Ter
XM_017011538.2:c.2169C>A (CUL7)	XP_016867027.1:p.Cys723Ter
XM_017011539.2:c.2142C>A (CUL7)	XP_016867028.1:p.Cys714Ter
XM_017011540.1:c.2421C>A (CUL7)	XP_016867029.1:p.Cys807Ter
NM_001168370.2:c.2238C>A (CUL7)	NP_001161842.2:p.Cys746Ter
NM_001374872.1:c.2238C>A (CUL7)	NP_001361801.1:p.Cys746Ter
NM_001374873.1:c.2142C>A (CUL7)	NP_001361802.1:p.Cys714Ter
NM_001374874.1:c.2142C>A (CUL7)	NP_001361803.1:p.Cys714Ter
NM_014780.5:c.2142C>A (CUL7) MANE Select	NP_055595.2:p.Cys714Ter