Canonical Allele Identifier: CA360357824

Gene: XRCC4

Linked Data

• gnomAD v4: 5-83353237-A-G
• MyVariant Identifiers: chr5:g.82649056A>G (hg19) ; chr5:g.83353237A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83353237A>G , CM000667.2:g.83353237A>G	GRCh38
NC_000005.9:g.82649056A>G , CM000667.1:g.82649056A>G	GRCh37
NC_000005.8:g.82684812A>G	NCBI36
NG_047086.1:g.280829A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396027.9:c.1000A>G MANE Select	ENSP00000379344.4:p.Ile334Val
ENST00000282268.7:c.1000A>G	ENSP00000282268.3:p.Ile334Val
ENST00000338635.10:c.1006A>G	ENSP00000342011.6:p.Ile336Val
ENST00000396027.8:c.1000A>G	ENSP00000379344.4:p.Ile334Val
ENST00000511817.1:c.1006A>G	ENSP00000421491.1:p.Ile336Val
NM_003401.3:c.1000A>G	NP_003392.1:p.Ile334Val
NM_022406.2:c.1006A>G	NP_071801.1:p.Ile336Val
NM_022550.2:c.1000A>G	NP_072044.1:p.Ile334Val
XM_005248595.1:c.1006A>G	XP_005248652.1:p.Ile336Val
XM_011543626.1:c.1006A>G	XP_011541928.1:p.Ile336Val
XM_011543629.1:c.346A>G	XP_011541931.1:p.Ile116Val
NM_001318012.1:c.1006A>G	NP_001304941.1:p.Ile336Val
NM_003401.4:c.1000A>G	NP_003392.1:p.Ile334Val
NM_022406.3:c.1006A>G	NP_071801.1:p.Ile336Val
NM_022550.3:c.1000A>G	NP_072044.1:p.Ile334Val
XM_017009827.2:c.894-17030A>G	XP_016865316.1:n.894-17030A>G
NM_001318012.2:c.1006A>G	NP_001304941.1:p.Ile336Val
NM_003401.5:c.1000A>G MANE Select	NP_003392.1:p.Ile334Val
NM_022406.4:c.1006A>G	NP_071801.1:p.Ile336Val
NM_001318012.3:c.1006A>G	NP_001304941.1:p.Ile336Val
NM_022406.5:c.1006A>G	NP_071801.1:p.Ile336Val
NM_022550.4:c.1000A>G	NP_072044.1:p.Ile334Val