Canonical Allele Identifier: CA138251551

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 1910880
• ClinVar RCV Id: RCV002589445
• dbSNP Id: rs993647881
• gnomAD v2: 6-43019147-C-T
• gnomAD v3: 6-43051409-C-T
• gnomAD v4: 6-43051409-C-T
• MyVariant Identifiers: chr6:g.43019147C>T (hg19) ; chr6:g.43051409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43051409C>T , CM000668.2:g.43051409C>T	GRCh38
NC_000006.11:g.43019147C>T , CM000668.1:g.43019147C>T	GRCh37
NC_000006.10:g.43127125C>T	NCBI36
NG_016205.1:g.7537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.792G>A (CUL7)	ENSP00000501166.2:p.Leu264=
ENST00000683160.1:n.1174G>A (CUL7)
ENST00000683493.1:n.833G>A (CUL7)
ENST00000685042.1:c.792G>A (CUL7)	ENSP00000509871.1:p.Leu264=
ENST00000686442.1:n.1075G>A (CUL7)
ENST00000687225.1:c.888G>A (CUL7)	ENSP00000509364.1:p.Leu296=
ENST00000688302.1:n.1075G>A (CUL7)
ENST00000688707.1:c.888G>A (CUL7)	ENSP00000510608.1:p.Leu296=
ENST00000689256.1:n.1091G>A (CUL7)
ENST00000690231.1:c.792G>A (CUL7)	ENSP00000508461.1:p.Leu264=
ENST00000265348.9:c.792G>A (CUL7) MANE Select	ENSP00000265348.4:p.Leu264=
ENST00000673753.1:n.1126G>A (CUL7)
ENST00000673761.1:c.1543G>A	ENSP00000501018.1:n.1543G>A
ENST00000674100.1:c.888G>A (CUL7)	ENSP00000501292.1:p.Leu296=
ENST00000674134.1:c.888G>A (CUL7)	ENSP00000501068.1:p.Leu296=
ENST00000265348.7:c.792G>A (CUL7)	ENSP00000265348.3:p.Leu264=
ENST00000467906.5:c.-552-7617C>T (KLC4)	ENSP00000418759.1:n.-552-7617C>T
ENST00000535468.1:c.1044G>A (CUL7)	ENSP00000438788.1:p.Leu348=
NM_001168370.1:c.1044G>A (CUL7)	NP_001161842.1:p.Leu348=
NM_014780.4:c.792G>A (CUL7)	NP_055595.2:p.Leu264=
XM_005249503.1:c.948G>A (CUL7)	XP_005249560.1:p.Leu316=
XM_006715285.1:c.888G>A (CUL7)	XP_006715348.1:p.Leu296=
XM_011515019.1:c.1044G>A (CUL7)	XP_011513321.1:p.Leu348=
XM_011515020.1:c.948G>A (CUL7)	XP_011513322.1:p.Leu316=
XM_005249503.3:c.948G>A (CUL7)	XP_005249560.1:p.Leu316=
XM_006715285.2:c.888G>A (CUL7)	XP_006715348.1:p.Leu296=
XM_011515019.2:c.1044G>A (CUL7)	XP_011513321.1:p.Leu348=
XM_011515020.2:c.948G>A (CUL7)	XP_011513322.1:p.Leu316=
XM_017011533.1:c.1044G>A (CUL7)	XP_016867022.1:p.Leu348=
XM_017011534.1:c.1044G>A (CUL7)	XP_016867023.1:p.Leu348=
XM_017011535.1:c.948G>A (CUL7)	XP_016867024.1:p.Leu316=
XM_017011536.2:c.888G>A (CUL7)	XP_016867025.1:p.Leu296=
XM_017011537.2:c.888G>A (CUL7)	XP_016867026.1:p.Leu296=
XM_017011538.2:c.792G>A (CUL7)	XP_016867027.1:p.Leu264=
XM_017011539.2:c.792G>A (CUL7)	XP_016867028.1:p.Leu264=
XM_017011540.1:c.1044G>A (CUL7)	XP_016867029.1:p.Leu348=
NM_001168370.2:c.888G>A (CUL7)	NP_001161842.2:p.Leu296=
NM_001374872.1:c.888G>A (CUL7)	NP_001361801.1:p.Leu296=
NM_001374873.1:c.792G>A (CUL7)	NP_001361802.1:p.Leu264=
NM_001374874.1:c.792G>A (CUL7)	NP_001361803.1:p.Leu264=
NM_014780.5:c.792G>A (CUL7) MANE Select	NP_055595.2:p.Leu264=