Canonical Allele Identifier: CA360357596

Gene: XRCC4

Linked Data

• gnomAD v4: 5-83353131-G-T
• MyVariant Identifiers: chr5:g.82648950G>T (hg19) ; chr5:g.83353131G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83353131G>T , CM000667.2:g.83353131G>T	GRCh38
NC_000005.9:g.82648950G>T , CM000667.1:g.82648950G>T	GRCh37
NC_000005.8:g.82684706G>T	NCBI36
NG_047086.1:g.280723G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396027.9:c.894G>T MANE Select	ENSP00000379344.4:p.Lys298Asn
ENST00000282268.7:c.894G>T	ENSP00000282268.3:p.Lys298Asn
ENST00000338635.10:c.900G>T	ENSP00000342011.6:p.Arg300Ser
ENST00000396027.8:c.894G>T	ENSP00000379344.4:p.Lys298Asn
ENST00000511817.1:c.900G>T	ENSP00000421491.1:p.Arg300Ser
NM_003401.3:c.894G>T	NP_003392.1:p.Lys298Asn
NM_022406.2:c.900G>T	NP_071801.1:p.Arg300Ser
NM_022550.2:c.894G>T	NP_072044.1:p.Lys298Asn
XM_005248595.1:c.900G>T	XP_005248652.1:p.Arg300Ser
XM_011543626.1:c.900G>T	XP_011541928.1:p.Arg300Ser
XM_011543629.1:c.240G>T	XP_011541931.1:p.Arg80Ser
NM_001318012.1:c.900G>T	NP_001304941.1:p.Arg300Ser
NM_003401.4:c.894G>T	NP_003392.1:p.Lys298Asn
NM_022406.3:c.900G>T	NP_071801.1:p.Arg300Ser
NM_022550.3:c.894G>T	NP_072044.1:p.Lys298Asn
XM_017009827.2:c.894-17136G>T	XP_016865316.1:n.894-17136G>T
NM_001318012.2:c.900G>T	NP_001304941.1:p.Arg300Ser
NM_003401.5:c.894G>T MANE Select	NP_003392.1:p.Lys298Asn
NM_022406.4:c.900G>T	NP_071801.1:p.Arg300Ser
NM_001318012.3:c.900G>T	NP_001304941.1:p.Arg300Ser
NM_022406.5:c.900G>T	NP_071801.1:p.Arg300Ser
NM_022550.4:c.894G>T	NP_072044.1:p.Lys298Asn