Canonical Allele Identifier: CA360357803

Gene: XRCC4

Linked Data

• MyVariant Identifiers: chr5:g.82649047T>C (hg19) ; chr5:g.83353228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83353228T>C , CM000667.2:g.83353228T>C	GRCh38
NC_000005.9:g.82649047T>C , CM000667.1:g.82649047T>C	GRCh37
NC_000005.8:g.82684803T>C	NCBI36
NG_047086.1:g.280820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396027.9:c.991T>C MANE Select	ENSP00000379344.4:p.Phe331Leu
ENST00000282268.7:c.991T>C	ENSP00000282268.3:p.Phe331Leu
ENST00000338635.10:c.997T>C	ENSP00000342011.6:p.Phe333Leu
ENST00000396027.8:c.991T>C	ENSP00000379344.4:p.Phe331Leu
ENST00000511817.1:c.997T>C	ENSP00000421491.1:p.Phe333Leu
NM_003401.3:c.991T>C	NP_003392.1:p.Phe331Leu
NM_022406.2:c.997T>C	NP_071801.1:p.Phe333Leu
NM_022550.2:c.991T>C	NP_072044.1:p.Phe331Leu
XM_005248595.1:c.997T>C	XP_005248652.1:p.Phe333Leu
XM_011543626.1:c.997T>C	XP_011541928.1:p.Phe333Leu
XM_011543629.1:c.337T>C	XP_011541931.1:p.Phe113Leu
NM_001318012.1:c.997T>C	NP_001304941.1:p.Phe333Leu
NM_003401.4:c.991T>C	NP_003392.1:p.Phe331Leu
NM_022406.3:c.997T>C	NP_071801.1:p.Phe333Leu
NM_022550.3:c.991T>C	NP_072044.1:p.Phe331Leu
XM_017009827.2:c.894-17039T>C	XP_016865316.1:n.894-17039T>C
NM_001318012.2:c.997T>C	NP_001304941.1:p.Phe333Leu
NM_003401.5:c.991T>C MANE Select	NP_003392.1:p.Phe331Leu
NM_022406.4:c.997T>C	NP_071801.1:p.Phe333Leu
NM_001318012.3:c.997T>C	NP_001304941.1:p.Phe333Leu
NM_022406.5:c.997T>C	NP_071801.1:p.Phe333Leu
NM_022550.4:c.991T>C	NP_072044.1:p.Phe331Leu