Canonical Allele Identifier: CA3814005

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs375929744
• ExAC: 6:43016074 G / T
• gnomAD v2: 6-43016074-G-T
• gnomAD v4: 6-43048336-G-T
• MyVariant Identifiers: chr6:g.43016074G>T (hg19) ; chr6:g.43016074_43016076delinsTCA (hg19) ; chr6:g.43048336G>T (hg38) ; chr6:g.43048336_43048338delinsTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048336G>T , CM000668.2:g.43048336G>T	GRCh38
NC_000006.11:g.43016074G>T , CM000668.1:g.43016074G>T	GRCh37
NC_000006.10:g.43124052G>T	NCBI36
NG_016205.1:g.10610C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.2059C>A (CUL7)	ENSP00000501166.2:p.Leu687Met
ENST00000685042.1:c.2059C>A (CUL7)	ENSP00000509871.1:p.Leu687Met
ENST00000686442.1:n.2342C>A (CUL7)
ENST00000687225.1:c.2155C>A (CUL7)	ENSP00000509364.1:p.Leu719Met
ENST00000688302.1:n.2342C>A (CUL7)
ENST00000689256.1:n.2358C>A (CUL7)
ENST00000690231.1:c.2059C>A (CUL7)	ENSP00000508461.1:p.Leu687Met
ENST00000265348.9:c.2059C>A (CUL7) MANE Select	ENSP00000265348.4:p.Leu687Met
ENST00000673725.1:c.8C>A (CUL7)
ENST00000673753.1:n.2393C>A (CUL7)
ENST00000674100.1:c.2155C>A (CUL7)	ENSP00000501292.1:p.Leu719Met
ENST00000674112.1:c.551C>A (CUL7)
ENST00000674134.1:c.2155C>A (CUL7)	ENSP00000501068.1:p.Leu719Met
ENST00000265348.7:c.2059C>A (CUL7)	ENSP00000265348.3:p.Leu687Met
ENST00000467906.5:c.-553+4828G>T (KLC4)	ENSP00000418759.1:n.-553+4828G>T
ENST00000535468.1:c.2311C>A (CUL7)	ENSP00000438788.1:p.Leu771Met
NM_001168370.1:c.2311C>A (CUL7)	NP_001161842.1:p.Leu771Met
NM_014780.4:c.2059C>A (CUL7)	NP_055595.2:p.Leu687Met
XM_005249503.1:c.2215C>A (CUL7)	XP_005249560.1:p.Leu739Met
XM_006715285.1:c.2155C>A (CUL7)	XP_006715348.1:p.Leu719Met
XM_011515019.1:c.2311C>A (CUL7)	XP_011513321.1:p.Leu771Met
XM_011515020.1:c.2215C>A (CUL7)	XP_011513322.1:p.Leu739Met
XM_011515021.1:c.-124C>A (CUL7)	XP_011513323.1:n.-124C>A
XM_005249503.3:c.2215C>A (CUL7)	XP_005249560.1:p.Leu739Met
XM_006715285.2:c.2155C>A (CUL7)	XP_006715348.1:p.Leu719Met
XM_011515019.2:c.2311C>A (CUL7)	XP_011513321.1:p.Leu771Met
XM_011515020.2:c.2215C>A (CUL7)	XP_011513322.1:p.Leu739Met
XM_017011533.1:c.2338C>A (CUL7)	XP_016867022.1:p.Leu780Met
XM_017011534.1:c.2338C>A (CUL7)	XP_016867023.1:p.Leu780Met
XM_017011535.1:c.2242C>A (CUL7)	XP_016867024.1:p.Leu748Met
XM_017011536.2:c.2182C>A (CUL7)	XP_016867025.1:p.Leu728Met
XM_017011537.2:c.2155C>A (CUL7)	XP_016867026.1:p.Leu719Met
XM_017011538.2:c.2086C>A (CUL7)	XP_016867027.1:p.Leu696Met
XM_017011539.2:c.2059C>A (CUL7)	XP_016867028.1:p.Leu687Met
XM_017011540.1:c.2338C>A (CUL7)	XP_016867029.1:p.Leu780Met
NM_001168370.2:c.2155C>A (CUL7)	NP_001161842.2:p.Leu719Met
NM_001374872.1:c.2155C>A (CUL7)	NP_001361801.1:p.Leu719Met
NM_001374873.1:c.2059C>A (CUL7)	NP_001361802.1:p.Leu687Met
NM_001374874.1:c.2059C>A (CUL7)	NP_001361803.1:p.Leu687Met
NM_014780.5:c.2059C>A (CUL7) MANE Select	NP_055595.2:p.Leu687Met