Canonical Allele Identifier: CA445279292
Gene: XRCC4 HGNC NCBI

Linked Data

gnomAD v3: 5-83353203-G-A
gnomAD v4: 5-83353203-G-A
MyVariant Identifiers: chr5:g.82649022G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.83353203G>A , CM000667.2:g.83353203G>A GRCh38
NC_000005.9:g.82649022G>A , CM000667.1:g.82649022G>A GRCh37
NC_000005.8:g.82684778G>A NCBI36
NG_047086.1:g.280795G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396027.9:c.966G>A MANE Select ENSP00000379344.4:p.Leu322=
ENST00000282268.7:c.966G>A ENSP00000282268.3:p.Leu322=
ENST00000338635.10:c.972G>A ENSP00000342011.6:p.Leu324=
ENST00000396027.8:c.966G>A ENSP00000379344.4:p.Leu322=
ENST00000511817.1:c.972G>A ENSP00000421491.1:p.Leu324=
NM_003401.3:c.966G>A NP_003392.1:p.Leu322=
NM_022406.2:c.972G>A NP_071801.1:p.Leu324=
NM_022550.2:c.966G>A NP_072044.1:p.Leu322=
XM_005248595.1:c.972G>A XP_005248652.1:p.Leu324=
XM_011543626.1:c.972G>A XP_011541928.1:p.Leu324=
XM_011543629.1:c.312G>A XP_011541931.1:p.Leu104=
NM_001318012.1:c.972G>A NP_001304941.1:p.Leu324=
NM_003401.4:c.966G>A NP_003392.1:p.Leu322=
NM_022406.3:c.972G>A NP_071801.1:p.Leu324=
NM_022550.3:c.966G>A NP_072044.1:p.Leu322=
XM_017009827.2:c.894-17064G>A XP_016865316.1:n.894-17064G>A
NM_001318012.2:c.972G>A NP_001304941.1:p.Leu324=
NM_003401.5:c.966G>A MANE Select NP_003392.1:p.Leu322=
NM_022406.4:c.972G>A NP_071801.1:p.Leu324=
NM_001318012.3:c.972G>A NP_001304941.1:p.Leu324=
NM_022406.5:c.972G>A NP_071801.1:p.Leu324=
NM_022550.4:c.966G>A NP_072044.1:p.Leu322=