Canonical Allele Identifier: CA3332320

Gene: XRCC4

Linked Data

• ClinVar Variation Id: 1369842
• ClinVar RCV Id: RCV001894988 ; RCV002503438
• dbSNP Id: rs61749611
• ExAC: 5:82649026 A / C
• gnomAD v2: 5-82649026-A-C
• gnomAD v3: 5-83353207-A-C
• gnomAD v4: 5-83353207-A-C
• MyVariant Identifiers: chr5:g.82649026A>C (hg19) ; chr5:g.83353207A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83353207A>C , CM000667.2:g.83353207A>C	GRCh38
NC_000005.9:g.82649026A>C , CM000667.1:g.82649026A>C	GRCh37
NC_000005.8:g.82684782A>C	NCBI36
NG_047086.1:g.280799A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396027.9:c.970A>C MANE Select	ENSP00000379344.4:p.Asn324His
ENST00000282268.7:c.970A>C	ENSP00000282268.3:p.Asn324His
ENST00000338635.10:c.976A>C	ENSP00000342011.6:p.Asn326His
ENST00000396027.8:c.970A>C	ENSP00000379344.4:p.Asn324His
ENST00000511817.1:c.976A>C	ENSP00000421491.1:p.Asn326His
NM_003401.3:c.970A>C	NP_003392.1:p.Asn324His
NM_022406.2:c.976A>C	NP_071801.1:p.Asn326His
NM_022550.2:c.970A>C	NP_072044.1:p.Asn324His
XM_005248595.1:c.976A>C	XP_005248652.1:p.Asn326His
XM_011543626.1:c.976A>C	XP_011541928.1:p.Asn326His
XM_011543629.1:c.316A>C	XP_011541931.1:p.Asn106His
NM_001318012.1:c.976A>C	NP_001304941.1:p.Asn326His
NM_003401.4:c.970A>C	NP_003392.1:p.Asn324His
NM_022406.3:c.976A>C	NP_071801.1:p.Asn326His
NM_022550.3:c.970A>C	NP_072044.1:p.Asn324His
XM_017009827.2:c.894-17060A>C	XP_016865316.1:n.894-17060A>C
NM_001318012.2:c.976A>C	NP_001304941.1:p.Asn326His
NM_003401.5:c.970A>C MANE Select	NP_003392.1:p.Asn324His
NM_022406.4:c.976A>C	NP_071801.1:p.Asn326His
NM_001318012.3:c.976A>C	NP_001304941.1:p.Asn326His
NM_022406.5:c.976A>C	NP_071801.1:p.Asn326His
NM_022550.4:c.970A>C	NP_072044.1:p.Asn324His