Canonical Allele Identifier: CA445279272

Gene: XRCC4

Linked Data

• dbSNP Id: rs1362904171
• gnomAD v2: 5-82648989-C-T
• gnomAD v4: 5-83353170-C-T
• MyVariant Identifiers: chr5:g.82648989C>T (hg19) ; chr5:g.83353170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83353170C>T , CM000667.2:g.83353170C>T	GRCh38
NC_000005.9:g.82648989C>T , CM000667.1:g.82648989C>T	GRCh37
NC_000005.8:g.82684745C>T	NCBI36
NG_047086.1:g.280762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396027.9:c.933C>T MANE Select	ENSP00000379344.4:p.His311=
ENST00000282268.7:c.933C>T	ENSP00000282268.3:p.His311=
ENST00000338635.10:c.939C>T	ENSP00000342011.6:p.His313=
ENST00000396027.8:c.933C>T	ENSP00000379344.4:p.His311=
ENST00000511817.1:c.939C>T	ENSP00000421491.1:p.His313=
NM_003401.3:c.933C>T	NP_003392.1:p.His311=
NM_022406.2:c.939C>T	NP_071801.1:p.His313=
NM_022550.2:c.933C>T	NP_072044.1:p.His311=
XM_005248595.1:c.939C>T	XP_005248652.1:p.His313=
XM_011543626.1:c.939C>T	XP_011541928.1:p.His313=
XM_011543629.1:c.279C>T	XP_011541931.1:p.His93=
NM_001318012.1:c.939C>T	NP_001304941.1:p.His313=
NM_003401.4:c.933C>T	NP_003392.1:p.His311=
NM_022406.3:c.939C>T	NP_071801.1:p.His313=
NM_022550.3:c.933C>T	NP_072044.1:p.His311=
XM_017009827.2:c.894-17097C>T	XP_016865316.1:n.894-17097C>T
NM_001318012.2:c.939C>T	NP_001304941.1:p.His313=
NM_003401.5:c.933C>T MANE Select	NP_003392.1:p.His311=
NM_022406.4:c.939C>T	NP_071801.1:p.His313=
NM_001318012.3:c.939C>T	NP_001304941.1:p.His313=
NM_022406.5:c.939C>T	NP_071801.1:p.His313=
NM_022550.4:c.933C>T	NP_072044.1:p.His311=