Canonical Allele Identifier: CA1078180580
Gene: XRCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1757137037
gnomAD v3: 5-83353291-T-C
gnomAD v4: 5-83353291-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.83353291T>C , CM000667.2:g.83353291T>C GRCh38
NC_000005.9:g.82649110T>C , CM000667.1:g.82649110T>C GRCh37
NC_000005.8:g.82684866T>C NCBI36
NG_047086.1:g.280883T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396027.9:c.*49T>C MANE Select ENSP00000379344.4:n.*49T>C
ENST00000282268.7:c.*49T>C ENSP00000282268.3:n.*49T>C
ENST00000338635.10:c.*49T>C ENSP00000342011.6:n.*49T>C
ENST00000396027.8:c.*49T>C ENSP00000379344.4:n.*49T>C
ENST00000511817.1:c.*49T>C ENSP00000421491.1:n.*49T>C
NM_003401.3:c.*49T>C NP_003392.1:n.*49T>C
NM_022406.2:c.*49T>C NP_071801.1:n.*49T>C
NM_022550.2:c.*49T>C NP_072044.1:n.*49T>C
XM_005248595.1:c.*49T>C XP_005248652.1:n.*49T>C
XM_011543626.1:c.*49T>C XP_011541928.1:n.*49T>C
XM_011543629.1:c.*49T>C XP_011541931.1:n.*49T>C
NM_001318012.1:c.*49T>C NP_001304941.1:n.*49T>C
NM_003401.4:c.*49T>C NP_003392.1:n.*49T>C
NM_022406.3:c.*49T>C NP_071801.1:n.*49T>C
NM_022550.3:c.*49T>C NP_072044.1:n.*49T>C
XM_017009827.2:c.894-16976T>C XP_016865316.1:n.894-16976T>C
NM_001318012.2:c.*49T>C NP_001304941.1:n.*49T>C
NM_003401.5:c.*49T>C MANE Select NP_003392.1:n.*49T>C
NM_022406.4:c.*49T>C NP_071801.1:n.*49T>C
NM_001318012.3:c.*49T>C NP_001304941.1:n.*49T>C
NM_022406.5:c.*49T>C NP_071801.1:n.*49T>C
NM_022550.4:c.*49T>C NP_072044.1:n.*49T>C