Canonical Allele Identifier: CA233245

Gene: UBR4

Linked Data

• ClinVar Variation Id: 156527
• ClinVar RCV Id: RCV000144679
• dbSNP Id: rs587777845
• ExAC: 1:19404522 C / T
• gnomAD v2: 1-19404522-C-T
• gnomAD v4: 1-19078028-C-T
• COSMIC: COSM365949
• MyVariant Identifiers: chr1:g.19404522C>T (hg19) ; chr1:g.19078028C>T (hg38)
• PubMed: PMID:23982692

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078028C>T , CM000663.2:g.19078028C>T	GRCh38
NC_000001.10:g.19404522C>T , CM000663.1:g.19404522C>T	GRCh37
NC_000001.9:g.19277109C>T	NCBI36
NG_027669.1:g.137225G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375254.8:c.15272G>A MANE Select	ENSP00000364403.3:p.Arg5091His
ENST00000375224.1:c.2393G>A	ENSP00000364372.1:p.Arg798His
ENST00000375225.7:c.497G>A	ENSP00000364373.3:p.Arg166His
ENST00000375254.7:c.15272G>A	ENSP00000364403.3:p.Arg5091His
ENST00000459947.5:n.3279G>A
NM_020765.2:c.15272G>A	NP_065816.2:p.Arg5091His
XM_011541108.1:c.15425G>A	XP_011539410.1:p.Arg5142His
XM_011541109.1:c.15422G>A	XP_011539411.1:p.Arg5141His
XM_011541110.1:c.15422G>A	XP_011539412.1:p.Arg5141His
XM_011541111.1:c.15422G>A	XP_011539413.1:p.Arg5141His
XM_011541112.1:c.15410G>A	XP_011539414.1:p.Arg5137His
XM_011541113.1:c.15407G>A	XP_011539415.1:p.Arg5136His
XM_011541114.1:c.15407G>A	XP_011539416.1:p.Arg5136His
XM_011541115.1:c.15401G>A	XP_011539417.1:p.Arg5134His
XM_011541116.1:c.15392G>A	XP_011539418.1:p.Arg5131His
XM_011541117.1:c.15341G>A	XP_011539419.1:p.Arg5114His
XM_011541118.1:c.15338G>A	XP_011539420.1:p.Arg5113His
XM_011541119.1:c.15305G>A	XP_011539421.1:p.Arg5102His
XM_011541120.1:c.15302G>A	XP_011539422.1:p.Arg5101His
XM_011541121.1:c.15269G>A	XP_011539423.1:p.Arg5090His
XM_011541108.3:c.15539G>A	XP_011539410.2:p.Arg5180His
XM_011541109.3:c.15536G>A	XP_011539411.2:p.Arg5179His
XM_011541110.3:c.15536G>A	XP_011539412.2:p.Arg5179His
XM_011541111.3:c.15536G>A	XP_011539413.2:p.Arg5179His
XM_011541112.3:c.15524G>A	XP_011539414.2:p.Arg5175His
XM_011541113.3:c.15521G>A	XP_011539415.2:p.Arg5174His
XM_011541114.3:c.15521G>A	XP_011539416.2:p.Arg5174His
XM_011541115.3:c.15515G>A	XP_011539417.2:p.Arg5172His
XM_011541116.3:c.15506G>A	XP_011539418.2:p.Arg5169His
XM_011541117.3:c.15455G>A	XP_011539419.2:p.Arg5152His
XM_011541118.3:c.15452G>A	XP_011539420.2:p.Arg5151His
XM_011541119.3:c.15419G>A	XP_011539421.2:p.Arg5140His
XM_011541120.3:c.15416G>A	XP_011539422.2:p.Arg5139His
XM_011541121.3:c.15383G>A	XP_011539423.2:p.Arg5128His
XM_017000822.2:c.15518G>A	XP_016856311.2:p.Arg5173His
XM_017000823.2:c.15491G>A	XP_016856312.2:p.Arg5164His
XM_017000824.2:c.15437G>A	XP_016856313.2:p.Arg5146His
XM_017000825.2:c.15422G>A	XP_016856314.2:p.Arg5141His
XM_017000826.2:c.15419G>A	XP_016856315.2:p.Arg5140His
XM_017000827.2:c.15404G>A	XP_016856316.2:p.Arg5135His
XM_017000828.2:c.15380G>A	XP_016856317.2:p.Arg5127His
XM_017000829.2:c.15332G>A	XP_016856318.2:p.Arg5111His
XM_017000830.2:c.15281G>A	XP_016856319.2:p.Arg5094His
NM_020765.3:c.15272G>A MANE Select	NP_065816.2:p.Arg5091His