Canonical Allele Identifier: CA3813987

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 1593668
• ClinVar RCV Id: RCV002105131
• dbSNP Id: rs148333100
• ExAC: 6:43015964 G / A
• gnomAD v2: 6-43015964-G-A
• gnomAD v3: 6-43048226-G-A
• gnomAD v4: 6-43048226-G-A
• MyVariant Identifiers: chr6:g.43015964G>A (hg19) ; chr6:g.43048226G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048226G>A , CM000668.2:g.43048226G>A	GRCh38
NC_000006.11:g.43015964G>A , CM000668.1:g.43015964G>A	GRCh37
NC_000006.10:g.43123942G>A	NCBI36
NG_016205.1:g.10720C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.2091C>T (CUL7)	ENSP00000501166.2:p.Pro697=
ENST00000685042.1:c.2091C>T (CUL7)	ENSP00000509871.1:p.Pro697=
ENST00000686442.1:n.2374C>T (CUL7)
ENST00000687225.1:c.2187C>T (CUL7)	ENSP00000509364.1:p.Pro729=
ENST00000688302.1:n.2374C>T (CUL7)
ENST00000689256.1:n.2390C>T (CUL7)
ENST00000690231.1:c.2091C>T (CUL7)	ENSP00000508461.1:p.Pro697=
ENST00000265348.9:c.2091C>T (CUL7) MANE Select	ENSP00000265348.4:p.Pro697=
ENST00000673725.1:c.40C>T (CUL7)
ENST00000673753.1:n.2425C>T (CUL7)
ENST00000674100.1:c.2187C>T (CUL7)	ENSP00000501292.1:p.Pro729=
ENST00000674112.1:c.583C>T (CUL7)
ENST00000674134.1:c.2187C>T (CUL7)	ENSP00000501068.1:p.Pro729=
ENST00000265348.7:c.2091C>T (CUL7)	ENSP00000265348.3:p.Pro697=
ENST00000467906.5:c.-553+4718G>A (KLC4)	ENSP00000418759.1:n.-553+4718G>A
ENST00000535468.1:c.2343C>T (CUL7)	ENSP00000438788.1:p.Pro781=
NM_001168370.1:c.2343C>T (CUL7)	NP_001161842.1:p.Pro781=
NM_014780.4:c.2091C>T (CUL7)	NP_055595.2:p.Pro697=
XM_005249503.1:c.2247C>T (CUL7)	XP_005249560.1:p.Pro749=
XM_006715285.1:c.2187C>T (CUL7)	XP_006715348.1:p.Pro729=
XM_011515019.1:c.2343C>T (CUL7)	XP_011513321.1:p.Pro781=
XM_011515020.1:c.2247C>T (CUL7)	XP_011513322.1:p.Pro749=
XM_011515021.1:c.-92C>T (CUL7)	XP_011513323.1:n.-92C>T
XM_005249503.3:c.2247C>T (CUL7)	XP_005249560.1:p.Pro749=
XM_006715285.2:c.2187C>T (CUL7)	XP_006715348.1:p.Pro729=
XM_011515019.2:c.2343C>T (CUL7)	XP_011513321.1:p.Pro781=
XM_011515020.2:c.2247C>T (CUL7)	XP_011513322.1:p.Pro749=
XM_017011533.1:c.2370C>T (CUL7)	XP_016867022.1:p.Pro790=
XM_017011534.1:c.2370C>T (CUL7)	XP_016867023.1:p.Pro790=
XM_017011535.1:c.2274C>T (CUL7)	XP_016867024.1:p.Pro758=
XM_017011536.2:c.2214C>T (CUL7)	XP_016867025.1:p.Pro738=
XM_017011537.2:c.2187C>T (CUL7)	XP_016867026.1:p.Pro729=
XM_017011538.2:c.2118C>T (CUL7)	XP_016867027.1:p.Pro706=
XM_017011539.2:c.2091C>T (CUL7)	XP_016867028.1:p.Pro697=
XM_017011540.1:c.2370C>T (CUL7)	XP_016867029.1:p.Pro790=
NM_001168370.2:c.2187C>T (CUL7)	NP_001161842.2:p.Pro729=
NM_001374872.1:c.2187C>T (CUL7)	NP_001361801.1:p.Pro729=
NM_001374873.1:c.2091C>T (CUL7)	NP_001361802.1:p.Pro697=
NM_001374874.1:c.2091C>T (CUL7)	NP_001361803.1:p.Pro697=
NM_014780.5:c.2091C>T (CUL7) MANE Select	NP_055595.2:p.Pro697=