Canonical Allele Identifier: CA445279266

Gene: XRCC4

Linked Data

• ClinVar Variation Id: 2417614
• ClinVar RCV Id: RCV003115083
• dbSNP Id: rs1580542857
• gnomAD v4: 5-83353152-G-A
• MyVariant Identifiers: chr5:g.82648971G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83353152G>A , CM000667.2:g.83353152G>A	GRCh38
NC_000005.9:g.82648971G>A , CM000667.1:g.82648971G>A	GRCh37
NC_000005.8:g.82684727G>A	NCBI36
NG_047086.1:g.280744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396027.9:c.915G>A MANE Select	ENSP00000379344.4:p.Glu305=
ENST00000282268.7:c.915G>A	ENSP00000282268.3:p.Glu305=
ENST00000338635.10:c.921G>A	ENSP00000342011.6:p.Glu307=
ENST00000396027.8:c.915G>A	ENSP00000379344.4:p.Glu305=
ENST00000511817.1:c.921G>A	ENSP00000421491.1:p.Glu307=
NM_003401.3:c.915G>A	NP_003392.1:p.Glu305=
NM_022406.2:c.921G>A	NP_071801.1:p.Glu307=
NM_022550.2:c.915G>A	NP_072044.1:p.Glu305=
XM_005248595.1:c.921G>A	XP_005248652.1:p.Glu307=
XM_011543626.1:c.921G>A	XP_011541928.1:p.Glu307=
XM_011543629.1:c.261G>A	XP_011541931.1:p.Glu87=
NM_001318012.1:c.921G>A	NP_001304941.1:p.Glu307=
NM_003401.4:c.915G>A	NP_003392.1:p.Glu305=
NM_022406.3:c.921G>A	NP_071801.1:p.Glu307=
NM_022550.3:c.915G>A	NP_072044.1:p.Glu305=
XM_017009827.2:c.894-17115G>A	XP_016865316.1:n.894-17115G>A
NM_001318012.2:c.921G>A	NP_001304941.1:p.Glu307=
NM_003401.5:c.915G>A MANE Select	NP_003392.1:p.Glu305=
NM_022406.4:c.921G>A	NP_071801.1:p.Glu307=
NM_001318012.3:c.921G>A	NP_001304941.1:p.Glu307=
NM_022406.5:c.921G>A	NP_071801.1:p.Glu307=
NM_022550.4:c.915G>A	NP_072044.1:p.Glu305=