Canonical Allele Identifier: CA364218423

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1764084207
• MyVariant Identifiers: chr6:g.43015942G>A (hg19) ; chr6:g.43048204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048204G>A , CM000668.2:g.43048204G>A	GRCh38
NC_000006.11:g.43015942G>A , CM000668.1:g.43015942G>A	GRCh37
NC_000006.10:g.43123920G>A	NCBI36
NG_016205.1:g.10742C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000674112.2:c.2113C>T (CUL7)	ENSP00000501166.2:p.His705Tyr
ENST00000685042.1:c.2113C>T (CUL7)	ENSP00000509871.1:p.His705Tyr
ENST00000686442.1:n.2396C>T (CUL7)
ENST00000687225.1:c.2209C>T (CUL7)	ENSP00000509364.1:p.His737Tyr
ENST00000688302.1:n.2396C>T (CUL7)
ENST00000689256.1:n.2412C>T (CUL7)
ENST00000690231.1:c.2113C>T (CUL7)	ENSP00000508461.1:p.His705Tyr
ENST00000265348.9:c.2113C>T (CUL7) MANE Select	ENSP00000265348.4:p.His705Tyr
ENST00000673725.1:c.62C>T (CUL7)
ENST00000673753.1:n.2447C>T (CUL7)
ENST00000674100.1:c.2209C>T (CUL7)	ENSP00000501292.1:p.His737Tyr
ENST00000674112.1:c.605C>T (CUL7)
ENST00000674134.1:c.2209C>T (CUL7)	ENSP00000501068.1:p.His737Tyr
ENST00000265348.7:c.2113C>T (CUL7)	ENSP00000265348.3:p.His705Tyr
ENST00000467906.5:c.-553+4696G>A (KLC4)	ENSP00000418759.1:n.-553+4696G>A
ENST00000535468.1:c.2365C>T (CUL7)	ENSP00000438788.1:p.His789Tyr
NM_001168370.1:c.2365C>T (CUL7)	NP_001161842.1:p.His789Tyr
NM_014780.4:c.2113C>T (CUL7)	NP_055595.2:p.His705Tyr
XM_005249503.1:c.2269C>T (CUL7)	XP_005249560.1:p.His757Tyr
XM_006715285.1:c.2209C>T (CUL7)	XP_006715348.1:p.His737Tyr
XM_011515019.1:c.2365C>T (CUL7)	XP_011513321.1:p.His789Tyr
XM_011515020.1:c.2269C>T (CUL7)	XP_011513322.1:p.His757Tyr
XM_011515021.1:c.-70C>T (CUL7)	XP_011513323.1:n.-70C>T
XM_005249503.3:c.2269C>T (CUL7)	XP_005249560.1:p.His757Tyr
XM_006715285.2:c.2209C>T (CUL7)	XP_006715348.1:p.His737Tyr
XM_011515019.2:c.2365C>T (CUL7)	XP_011513321.1:p.His789Tyr
XM_011515020.2:c.2269C>T (CUL7)	XP_011513322.1:p.His757Tyr
XM_017011533.1:c.2392C>T (CUL7)	XP_016867022.1:p.His798Tyr
XM_017011534.1:c.2392C>T (CUL7)	XP_016867023.1:p.His798Tyr
XM_017011535.1:c.2296C>T (CUL7)	XP_016867024.1:p.His766Tyr
XM_017011536.2:c.2236C>T (CUL7)	XP_016867025.1:p.His746Tyr
XM_017011537.2:c.2209C>T (CUL7)	XP_016867026.1:p.His737Tyr
XM_017011538.2:c.2140C>T (CUL7)	XP_016867027.1:p.His714Tyr
XM_017011539.2:c.2113C>T (CUL7)	XP_016867028.1:p.His705Tyr
XM_017011540.1:c.2392C>T (CUL7)	XP_016867029.1:p.His798Tyr
NM_001168370.2:c.2209C>T (CUL7)	NP_001161842.2:p.His737Tyr
NM_001374872.1:c.2209C>T (CUL7)	NP_001361801.1:p.His737Tyr
NM_001374873.1:c.2113C>T (CUL7)	NP_001361802.1:p.His705Tyr
NM_001374874.1:c.2113C>T (CUL7)	NP_001361803.1:p.His705Tyr
NM_014780.5:c.2113C>T (CUL7) MANE Select	NP_055595.2:p.His705Tyr