Canonical Allele Identifier: CA364203220

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1763589120
• gnomAD v3: 6-43043085-C-A
• gnomAD v4: 6-43043085-C-A
• MyVariant Identifiers: chr6:g.43010823C>A (hg19) ; chr6:g.43043085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43043085C>A , CM000668.2:g.43043085C>A	GRCh38
NC_000006.11:g.43010823C>A , CM000668.1:g.43010823C>A	GRCh37
NC_000006.10:g.43118801C>A	NCBI36
NG_016205.1:g.15861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1522G>T (CUL7)
ENST00000674112.2:c.3451G>T (CUL7)	ENSP00000501166.2:p.Val1151Leu
ENST00000685042.1:c.*107G>T (CUL7)	ENSP00000509871.1:n.*107G>T
ENST00000686442.1:n.4012G>T (CUL7)
ENST00000687225.1:c.*1748G>T (CUL7)	ENSP00000509364.1:n.*1748G>T
ENST00000688302.1:n.3734G>T (CUL7)
ENST00000689256.1:n.4028G>T (CUL7)
ENST00000690231.1:c.3451G>T (CUL7)	ENSP00000508461.1:p.Val1151Leu
ENST00000265348.9:c.3451G>T (CUL7) MANE Select	ENSP00000265348.4:p.Val1151Leu
ENST00000673725.1:c.1400G>T (CUL7)
ENST00000673753.1:n.4290G>T (CUL7)
ENST00000674100.1:c.3547G>T (CUL7)	ENSP00000501292.1:p.Val1183Leu
ENST00000674112.1:c.1943G>T (CUL7)
ENST00000674134.1:c.3547G>T (CUL7)	ENSP00000501068.1:p.Val1183Leu
ENST00000265348.7:c.3451G>T (CUL7)	ENSP00000265348.3:p.Val1151Leu
ENST00000467906.5:c.-976C>A (KLC4)	ENSP00000418759.1:n.-976C>A
ENST00000535468.1:c.3703G>T (CUL7)	ENSP00000438788.1:p.Val1235Leu
NM_001168370.1:c.3703G>T (CUL7)	NP_001161842.1:p.Val1235Leu
NM_014780.4:c.3451G>T (CUL7)	NP_055595.2:p.Val1151Leu
XM_005249503.1:c.3607G>T (CUL7)	XP_005249560.1:p.Val1203Leu
XM_006715285.1:c.3547G>T (CUL7)	XP_006715348.1:p.Val1183Leu
XM_011515019.1:c.3703G>T (CUL7)	XP_011513321.1:p.Val1235Leu
XM_011515020.1:c.3607G>T (CUL7)	XP_011513322.1:p.Val1203Leu
XM_011515021.1:c.1312G>T (CUL7)	XP_011513323.1:p.Val438Leu
XM_005249503.3:c.3607G>T (CUL7)	XP_005249560.1:p.Val1203Leu
XM_006715285.2:c.3547G>T (CUL7)	XP_006715348.1:p.Val1183Leu
XM_011515019.2:c.3703G>T (CUL7)	XP_011513321.1:p.Val1235Leu
XM_011515020.2:c.3607G>T (CUL7)	XP_011513322.1:p.Val1203Leu
XM_017011533.1:c.3730G>T (CUL7)	XP_016867022.1:p.Val1244Leu
XM_017011534.1:c.3730G>T (CUL7)	XP_016867023.1:p.Val1244Leu
XM_017011535.1:c.3634G>T (CUL7)	XP_016867024.1:p.Val1212Leu
XM_017011536.2:c.3574G>T (CUL7)	XP_016867025.1:p.Val1192Leu
XM_017011537.2:c.3547G>T (CUL7)	XP_016867026.1:p.Val1183Leu
XM_017011538.2:c.3478G>T (CUL7)	XP_016867027.1:p.Val1160Leu
XM_017011539.2:c.3451G>T (CUL7)	XP_016867028.1:p.Val1151Leu
NM_001168370.2:c.3547G>T (CUL7)	NP_001161842.2:p.Val1183Leu
NM_001374872.1:c.3547G>T (CUL7)	NP_001361801.1:p.Val1183Leu
NM_001374873.1:c.3451G>T (CUL7)	NP_001361802.1:p.Val1151Leu
NM_001374874.1:c.3448G>T (CUL7)	NP_001361803.1:p.Val1150Leu
NM_014780.5:c.3451G>T (CUL7) MANE Select	NP_055595.2:p.Val1151Leu