Canonical Allele Identifier: CA3332310

Gene: XRCC4

Linked Data

• ClinVar Variation Id: 1245076
• ClinVar RCV Id: RCV001651398 ; RCV002243357
• dbSNP Id: rs1056503
• ExAC: 5:82648977 T / G
• gnomAD v2: 5-82648977-T-G
• gnomAD v3: 5-83353158-T-G
• gnomAD v4: 5-83353158-T-G
• MyVariant Identifiers: chr5:g.82648977T>G (hg19) ; chr5:g.83353158T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83353158T>G , CM000667.2:g.83353158T>G	GRCh38
NC_000005.9:g.82648977T>G , CM000667.1:g.82648977T>G	GRCh37
NC_000005.8:g.82684733T>G	NCBI36
NG_047086.1:g.280750T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396027.9:c.921T>G MANE Select	ENSP00000379344.4:p.Ser307=
ENST00000282268.7:c.921T>G	ENSP00000282268.3:p.Ser307=
ENST00000338635.10:c.927T>G	ENSP00000342011.6:p.Ser309=
ENST00000396027.8:c.921T>G	ENSP00000379344.4:p.Ser307=
ENST00000511817.1:c.927T>G	ENSP00000421491.1:p.Ser309=
NM_003401.3:c.921T>G	NP_003392.1:p.Ser307=
NM_022406.2:c.927T>G	NP_071801.1:p.Ser309=
NM_022550.2:c.921T>G	NP_072044.1:p.Ser307=
XM_005248595.1:c.927T>G	XP_005248652.1:p.Ser309=
XM_011543626.1:c.927T>G	XP_011541928.1:p.Ser309=
XM_011543629.1:c.267T>G	XP_011541931.1:p.Ser89=
NM_001318012.1:c.927T>G	NP_001304941.1:p.Ser309=
NM_003401.4:c.921T>G	NP_003392.1:p.Ser307=
NM_022406.3:c.927T>G	NP_071801.1:p.Ser309=
NM_022550.3:c.921T>G	NP_072044.1:p.Ser307=
XM_017009827.2:c.894-17109T>G	XP_016865316.1:n.894-17109T>G
NM_001318012.2:c.927T>G	NP_001304941.1:p.Ser309=
NM_003401.5:c.921T>G MANE Select	NP_003392.1:p.Ser307=
NM_022406.4:c.927T>G	NP_071801.1:p.Ser309=
NM_001318012.3:c.927T>G	NP_001304941.1:p.Ser309=
NM_022406.5:c.927T>G	NP_071801.1:p.Ser309=
NM_022550.4:c.921T>G	NP_072044.1:p.Ser307=