Canonical Allele Identifier: CA3813461

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs761625972
• ExAC: 6:43010703 G / A
• gnomAD v2: 6-43010703-G-A
• gnomAD v4: 6-43042965-G-A
• MyVariant Identifiers: chr6:g.43010703G>A (hg19) ; chr6:g.43042965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042965G>A , CM000668.2:g.43042965G>A	GRCh38
NC_000006.11:g.43010703G>A , CM000668.1:g.43010703G>A	GRCh37
NC_000006.10:g.43118681G>A	NCBI36
NG_016205.1:g.15981C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478630.2:n.1553C>T (CUL7)
ENST00000674112.2:c.3482C>T (CUL7)	ENSP00000501166.2:p.Ser1161Leu
ENST00000685042.1:c.*138C>T (CUL7)	ENSP00000509871.1:n.*138C>T
ENST00000686442.1:n.4043C>T (CUL7)
ENST00000687225.1:c.*1779C>T (CUL7)	ENSP00000509364.1:n.*1779C>T
ENST00000688302.1:n.3765C>T (CUL7)
ENST00000689256.1:n.4059C>T (CUL7)
ENST00000690231.1:c.3482C>T (CUL7)	ENSP00000508461.1:p.Ser1161Leu
ENST00000265348.9:c.3482C>T (CUL7) MANE Select	ENSP00000265348.4:p.Ser1161Leu
ENST00000673725.1:c.1412-59C>T (CUL7)
ENST00000673753.1:n.4321C>T (CUL7)
ENST00000674100.1:c.3578C>T (CUL7)	ENSP00000501292.1:p.Ser1193Leu
ENST00000674112.1:c.1974C>T (CUL7)
ENST00000674134.1:c.3578C>T (CUL7)	ENSP00000501068.1:p.Ser1193Leu
ENST00000265348.7:c.3482C>T (CUL7)	ENSP00000265348.3:p.Ser1161Leu
ENST00000467906.5:c.-1003-93G>A (KLC4)	ENSP00000418759.1:n.-1003-93G>A
ENST00000535468.1:c.3734C>T (CUL7)	ENSP00000438788.1:p.Ser1245Leu
NM_001168370.1:c.3734C>T (CUL7)	NP_001161842.1:p.Ser1245Leu
NM_014780.4:c.3482C>T (CUL7)	NP_055595.2:p.Ser1161Leu
XM_005249503.1:c.3638C>T (CUL7)	XP_005249560.1:p.Ser1213Leu
XM_006715285.1:c.3578C>T (CUL7)	XP_006715348.1:p.Ser1193Leu
XM_011515019.1:c.3734C>T (CUL7)	XP_011513321.1:p.Ser1245Leu
XM_011515020.1:c.3638C>T (CUL7)	XP_011513322.1:p.Ser1213Leu
XM_011515021.1:c.1343C>T (CUL7)	XP_011513323.1:p.Ser448Leu
XM_005249503.3:c.3638C>T (CUL7)	XP_005249560.1:p.Ser1213Leu
XM_006715285.2:c.3578C>T (CUL7)	XP_006715348.1:p.Ser1193Leu
XM_011515019.2:c.3734C>T (CUL7)	XP_011513321.1:p.Ser1245Leu
XM_011515020.2:c.3638C>T (CUL7)	XP_011513322.1:p.Ser1213Leu
XM_017011533.1:c.3761C>T (CUL7)	XP_016867022.1:p.Ser1254Leu
XM_017011534.1:c.3761C>T (CUL7)	XP_016867023.1:p.Ser1254Leu
XM_017011535.1:c.3665C>T (CUL7)	XP_016867024.1:p.Ser1222Leu
XM_017011536.2:c.3605C>T (CUL7)	XP_016867025.1:p.Ser1202Leu
XM_017011537.2:c.3578C>T (CUL7)	XP_016867026.1:p.Ser1193Leu
XM_017011538.2:c.3509C>T (CUL7)	XP_016867027.1:p.Ser1170Leu
XM_017011539.2:c.3482C>T (CUL7)	XP_016867028.1:p.Ser1161Leu
NM_001168370.2:c.3578C>T (CUL7)	NP_001161842.2:p.Ser1193Leu
NM_001374872.1:c.3578C>T (CUL7)	NP_001361801.1:p.Ser1193Leu
NM_001374873.1:c.3482C>T (CUL7)	NP_001361802.1:p.Ser1161Leu
NM_001374874.1:c.3479C>T (CUL7)	NP_001361803.1:p.Ser1160Leu
NM_014780.5:c.3482C>T (CUL7) MANE Select	NP_055595.2:p.Ser1161Leu