Canonical Allele Identifier: CA3332099

Gene: XRCC4

Linked Data

• ClinVar Variation Id: 2420518
• ClinVar RCV Id: RCV003121683
• dbSNP Id: rs367623160
• ExAC: 5:82406878 T / C
• gnomAD v2: 5-82406878-T-C
• gnomAD v3: 5-83111059-T-C
• gnomAD v4: 5-83111059-T-C
• MyVariant Identifiers: chr5:g.82406878T>C (hg19) ; chr5:g.83111059T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83111059T>C , CM000667.2:g.83111059T>C	GRCh38
NC_000005.9:g.82406878T>C , CM000667.1:g.82406878T>C	GRCh37
NC_000005.8:g.82442634T>C	NCBI36
NG_047086.1:g.38651T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396027.9:c.171T>C MANE Select	ENSP00000379344.4:p.Asp57=
ENST00000282268.7:c.171T>C	ENSP00000282268.3:p.Asp57=
ENST00000338635.10:c.171T>C	ENSP00000342011.6:p.Asp57=
ENST00000396027.8:c.171T>C	ENSP00000379344.4:p.Asp57=
ENST00000509268.1:n.183T>C
ENST00000511817.1:c.171T>C	ENSP00000421491.1:p.Asp57=
ENST00000542685.5:n.240T>C
NM_003401.3:c.171T>C	NP_003392.1:p.Asp57=
NM_022406.2:c.171T>C	NP_071801.1:p.Asp57=
NM_022550.2:c.171T>C	NP_072044.1:p.Asp57=
XM_005248595.1:c.171T>C	XP_005248652.1:p.Asp57=
XM_011543626.1:c.171T>C	XP_011541928.1:p.Asp57=
XM_011543627.1:c.171T>C	XP_011541929.1:p.Asp57=
XM_011543628.1:c.171T>C	XP_011541930.1:p.Asp57=
NM_001318012.1:c.171T>C	NP_001304941.1:p.Asp57=
NM_001318013.1:c.171T>C	NP_001304942.1:p.Asp57=
NM_003401.4:c.171T>C	NP_003392.1:p.Asp57=
NM_022406.3:c.171T>C	NP_071801.1:p.Asp57=
NM_022550.3:c.171T>C	NP_072044.1:p.Asp57=
XM_017009827.2:c.171T>C	XP_016865316.1:p.Asp57=
XM_017009828.2:c.171T>C	XP_016865317.1:p.Asp57=
XM_017009829.2:c.171T>C	XP_016865318.1:p.Asp57=
NM_001318012.2:c.171T>C	NP_001304941.1:p.Asp57=
NM_001318013.2:c.171T>C	NP_001304942.1:p.Asp57=
NM_003401.5:c.171T>C MANE Select	NP_003392.1:p.Asp57=
NM_022406.4:c.171T>C	NP_071801.1:p.Asp57=
NM_001318012.3:c.171T>C	NP_001304941.1:p.Asp57=
NM_022406.5:c.171T>C	NP_071801.1:p.Asp57=
NM_022550.4:c.171T>C	NP_072044.1:p.Asp57=