Canonical Allele Identifier: CA138249187

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs759844191
• gnomAD v4: 6-43048302-C-A
• MyVariant Identifiers: chr6:g.43016040C>A (hg19) ; chr6:g.43048302C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048302C>A , CM000668.2:g.43048302C>A	GRCh38
NC_000006.11:g.43016040C>A , CM000668.1:g.43016040C>A	GRCh37
NC_000006.10:g.43124018C>A	NCBI36
NG_016205.1:g.10644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.2063+30G>T (CUL7)	ENSP00000501166.2:n.2063+30G>T
ENST00000685042.1:c.2063+30G>T (CUL7)	ENSP00000509871.1:n.2063+30G>T
ENST00000686442.1:n.2346+30G>T (CUL7)
ENST00000687225.1:c.2159+30G>T (CUL7)	ENSP00000509364.1:n.2159+30G>T
ENST00000688302.1:n.2346+30G>T (CUL7)
ENST00000689256.1:n.2362+30G>T (CUL7)
ENST00000690231.1:c.2063+30G>T (CUL7)	ENSP00000508461.1:n.2063+30G>T
ENST00000265348.9:c.2063+30G>T (CUL7) MANE Select	ENSP00000265348.4:n.2063+30G>T
ENST00000673725.1:c.12+30G>T (CUL7)
ENST00000673753.1:n.2397+30G>T (CUL7)
ENST00000674100.1:c.2159+30G>T (CUL7)	ENSP00000501292.1:n.2159+30G>T
ENST00000674112.1:c.555+30G>T (CUL7)
ENST00000674134.1:c.2159+30G>T (CUL7)	ENSP00000501068.1:n.2159+30G>T
ENST00000265348.7:c.2063+30G>T (CUL7)	ENSP00000265348.3:n.2063+30G>T
ENST00000467906.5:c.-553+4794C>A (KLC4)	ENSP00000418759.1:n.-553+4794C>A
ENST00000535468.1:c.2315+30G>T (CUL7)	ENSP00000438788.1:n.2315+30G>T
NM_001168370.1:c.2315+30G>T (CUL7)	NP_001161842.1:n.2315+30G>T
NM_014780.4:c.2063+30G>T (CUL7)	NP_055595.2:n.2063+30G>T
XM_005249503.1:c.2219+30G>T (CUL7)	XP_005249560.1:n.2219+30G>T
XM_006715285.1:c.2159+30G>T (CUL7)	XP_006715348.1:n.2159+30G>T
XM_011515019.1:c.2315+30G>T (CUL7)	XP_011513321.1:n.2315+30G>T
XM_011515020.1:c.2219+30G>T (CUL7)	XP_011513322.1:n.2219+30G>T
XM_011515021.1:c.-120+30G>T (CUL7)	XP_011513323.1:n.-120+30G>T
XM_005249503.3:c.2219+30G>T (CUL7)	XP_005249560.1:n.2219+30G>T
XM_006715285.2:c.2159+30G>T (CUL7)	XP_006715348.1:n.2159+30G>T
XM_011515019.2:c.2315+30G>T (CUL7)	XP_011513321.1:n.2315+30G>T
XM_011515020.2:c.2219+30G>T (CUL7)	XP_011513322.1:n.2219+30G>T
XM_017011533.1:c.2342+30G>T (CUL7)	XP_016867022.1:n.2342+30G>T
XM_017011534.1:c.2342+30G>T (CUL7)	XP_016867023.1:n.2342+30G>T
XM_017011535.1:c.2246+30G>T (CUL7)	XP_016867024.1:n.2246+30G>T
XM_017011536.2:c.2186+30G>T (CUL7)	XP_016867025.1:n.2186+30G>T
XM_017011537.2:c.2159+30G>T (CUL7)	XP_016867026.1:n.2159+30G>T
XM_017011538.2:c.2090+30G>T (CUL7)	XP_016867027.1:n.2090+30G>T
XM_017011539.2:c.2063+30G>T (CUL7)	XP_016867028.1:n.2063+30G>T
XM_017011540.1:c.2342+30G>T (CUL7)	XP_016867029.1:n.2342+30G>T
NM_001168370.2:c.2159+30G>T (CUL7)	NP_001161842.2:n.2159+30G>T
NM_001374872.1:c.2159+30G>T (CUL7)	NP_001361801.1:n.2159+30G>T
NM_001374873.1:c.2063+30G>T (CUL7)	NP_001361802.1:n.2063+30G>T
NM_001374874.1:c.2063+30G>T (CUL7)	NP_001361803.1:n.2063+30G>T
NM_014780.5:c.2063+30G>T (CUL7) MANE Select	NP_055595.2:n.2063+30G>T