Canonical Allele Identifier: CA3332309
Gene: XRCC4 HGNC NCBI

Linked Data

dbSNP Id: rs137997451
gnomAD v2: 5-82648974-G-T
gnomAD v3: 5-83353155-G-T
gnomAD v4: 5-83353155-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.83353155G>T , CM000667.2:g.83353155G>T GRCh38
NC_000005.9:g.82648974G>T , CM000667.1:g.82648974G>T GRCh37
NC_000005.8:g.82684730G>T NCBI36
NG_047086.1:g.280747G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396027.9:c.918G>T MANE Select ENSP00000379344.4:p.Thr306=
ENST00000282268.7:c.918G>T ENSP00000282268.3:p.Thr306=
ENST00000338635.10:c.924G>T ENSP00000342011.6:p.Thr308=
ENST00000396027.8:c.918G>T ENSP00000379344.4:p.Thr306=
ENST00000511817.1:c.924G>T ENSP00000421491.1:p.Thr308=
NM_003401.3:c.918G>T NP_003392.1:p.Thr306=
NM_022406.2:c.924G>T NP_071801.1:p.Thr308=
NM_022550.2:c.918G>T NP_072044.1:p.Thr306=
XM_005248595.1:c.924G>T XP_005248652.1:p.Thr308=
XM_011543626.1:c.924G>T XP_011541928.1:p.Thr308=
XM_011543629.1:c.264G>T XP_011541931.1:p.Thr88=
NM_001318012.1:c.924G>T NP_001304941.1:p.Thr308=
NM_003401.4:c.918G>T NP_003392.1:p.Thr306=
NM_022406.3:c.924G>T NP_071801.1:p.Thr308=
NM_022550.3:c.918G>T NP_072044.1:p.Thr306=
XM_017009827.2:c.894-17112G>T XP_016865316.1:n.894-17112G>T
NM_001318012.2:c.924G>T NP_001304941.1:p.Thr308=
NM_003401.5:c.918G>T MANE Select NP_003392.1:p.Thr306=
NM_022406.4:c.924G>T NP_071801.1:p.Thr308=
NM_001318012.3:c.924G>T NP_001304941.1:p.Thr308=
NM_022406.5:c.924G>T NP_071801.1:p.Thr308=
NM_022550.4:c.918G>T NP_072044.1:p.Thr306=