Canonical Allele Identifier: CA204482

Gene: XRCC4

Linked Data

• ClinVar Variation Id: 208516
• ClinVar RCV Id: RCV000190523
• dbSNP Id: rs797045016
• gnomAD v4: 5-83258607-C-T
• MyVariant Identifiers: chr5:g.82554426C>T (hg19) ; chr5:g.83258607C>T (hg38)
• PubMed: PMID:25728776 ; PMID:25839420

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83258607C>T , CM000667.2:g.83258607C>T	GRCh38
NC_000005.9:g.82554426C>T , CM000667.1:g.82554426C>T	GRCh37
NC_000005.8:g.82590182C>T	NCBI36
NG_047086.1:g.186199C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396027.9:c.823C>T MANE Select	ENSP00000379344.4:p.Arg275Ter
ENST00000282268.7:c.823C>T	ENSP00000282268.3:p.Arg275Ter
ENST00000338635.10:c.823C>T	ENSP00000342011.6:p.Arg275Ter
ENST00000396027.8:c.823C>T	ENSP00000379344.4:p.Arg275Ter
ENST00000509268.1:n.835C>T
ENST00000511817.1:c.823C>T	ENSP00000421491.1:p.Arg275Ter
ENST00000542685.5:n.892C>T
NM_003401.3:c.823C>T	NP_003392.1:p.Arg275Ter
NM_022406.2:c.823C>T	NP_071801.1:p.Arg275Ter
NM_022550.2:c.823C>T	NP_072044.1:p.Arg275Ter
XM_005248595.1:c.823C>T	XP_005248652.1:p.Arg275Ter
XM_011543626.1:c.823C>T	XP_011541928.1:p.Arg275Ter
XM_011543627.1:c.823C>T	XP_011541929.1:p.Arg275Ter
XM_011543628.1:c.*113C>T	XP_011541930.1:n.*113C>T
XM_011543629.1:c.163C>T	XP_011541931.1:p.Arg55Ter
NM_001318012.1:c.823C>T	NP_001304941.1:p.Arg275Ter
NM_001318013.1:c.823C>T	NP_001304942.1:p.Arg275Ter
NM_003401.4:c.823C>T	NP_003392.1:p.Arg275Ter
NM_022406.3:c.823C>T	NP_071801.1:p.Arg275Ter
NM_022550.3:c.823C>T	NP_072044.1:p.Arg275Ter
XM_017009827.2:c.823C>T	XP_016865316.1:p.Arg275Ter
XM_017009828.2:c.823C>T	XP_016865317.1:p.Arg275Ter
NM_001318012.2:c.823C>T	NP_001304941.1:p.Arg275Ter
NM_001318013.2:c.823C>T	NP_001304942.1:p.Arg275Ter
NM_003401.5:c.823C>T MANE Select	NP_003392.1:p.Arg275Ter
NM_022406.4:c.823C>T	NP_071801.1:p.Arg275Ter
NM_001318012.3:c.823C>T	NP_001304941.1:p.Arg275Ter
NM_022406.5:c.823C>T	NP_071801.1:p.Arg275Ter
NM_022550.4:c.823C>T	NP_072044.1:p.Arg275Ter