Canonical Allele Identifier: CA360357776

Gene: XRCC4

Linked Data

• dbSNP Id: rs1351243013
• gnomAD v3: 5-83353216-C-A
• gnomAD v4: 5-83353216-C-A
• MyVariant Identifiers: chr5:g.82649035C>A (hg19) ; chr5:g.83353216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83353216C>A , CM000667.2:g.83353216C>A	GRCh38
NC_000005.9:g.82649035C>A , CM000667.1:g.82649035C>A	GRCh37
NC_000005.8:g.82684791C>A	NCBI36
NG_047086.1:g.280808C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396027.9:c.979C>A MANE Select	ENSP00000379344.4:p.Pro327Thr
ENST00000282268.7:c.979C>A	ENSP00000282268.3:p.Pro327Thr
ENST00000338635.10:c.985C>A	ENSP00000342011.6:p.Pro329Thr
ENST00000396027.8:c.979C>A	ENSP00000379344.4:p.Pro327Thr
ENST00000511817.1:c.985C>A	ENSP00000421491.1:p.Pro329Thr
NM_003401.3:c.979C>A	NP_003392.1:p.Pro327Thr
NM_022406.2:c.985C>A	NP_071801.1:p.Pro329Thr
NM_022550.2:c.979C>A	NP_072044.1:p.Pro327Thr
XM_005248595.1:c.985C>A	XP_005248652.1:p.Pro329Thr
XM_011543626.1:c.985C>A	XP_011541928.1:p.Pro329Thr
XM_011543629.1:c.325C>A	XP_011541931.1:p.Pro109Thr
NM_001318012.1:c.985C>A	NP_001304941.1:p.Pro329Thr
NM_003401.4:c.979C>A	NP_003392.1:p.Pro327Thr
NM_022406.3:c.985C>A	NP_071801.1:p.Pro329Thr
NM_022550.3:c.979C>A	NP_072044.1:p.Pro327Thr
XM_017009827.2:c.894-17051C>A	XP_016865316.1:n.894-17051C>A
NM_001318012.2:c.985C>A	NP_001304941.1:p.Pro329Thr
NM_003401.5:c.979C>A MANE Select	NP_003392.1:p.Pro327Thr
NM_022406.4:c.985C>A	NP_071801.1:p.Pro329Thr
NM_001318012.3:c.985C>A	NP_001304941.1:p.Pro329Thr
NM_022406.5:c.985C>A	NP_071801.1:p.Pro329Thr
NM_022550.4:c.979C>A	NP_072044.1:p.Pro327Thr