Canonical Allele Identifier: CA3332243
Gene: XRCC4 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.83204915G>T , CM000667.2:g.83204915G>T GRCh38
NC_000005.9:g.82500734G>T , CM000667.1:g.82500734G>T GRCh37
NC_000005.8:g.82536490G>T NCBI36
NG_047086.1:g.132507G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396027.9:c.739G>T MANE Select ENSP00000379344.4:p.Ala247Ser
ENST00000282268.7:c.739G>T ENSP00000282268.3:p.Ala247Ser
ENST00000338635.10:c.739G>T ENSP00000342011.6:p.Ala247Ser
ENST00000396027.8:c.739G>T ENSP00000379344.4:p.Ala247Ser
ENST00000509268.1:n.751G>T
ENST00000511817.1:c.739G>T ENSP00000421491.1:p.Ala247Ser
ENST00000542685.5:n.808G>T
NM_003401.3:c.739G>T NP_003392.1:p.Ala247Ser
NM_022406.2:c.739G>T NP_071801.1:p.Ala247Ser
NM_022550.2:c.739G>T NP_072044.1:p.Ala247Ser
XM_005248595.1:c.739G>T XP_005248652.1:p.Ala247Ser
XM_011543626.1:c.739G>T XP_011541928.1:p.Ala247Ser
XM_011543627.1:c.739G>T XP_011541929.1:p.Ala247Ser
XM_011543628.1:c.739G>T XP_011541930.1:p.Ala247Ser
XM_011543629.1:c.79G>T XP_011541931.1:p.Ala27Ser
NM_001318012.1:c.739G>T NP_001304941.1:p.Ala247Ser
NM_001318013.1:c.739G>T NP_001304942.1:p.Ala247Ser
NM_003401.4:c.739G>T NP_003392.1:p.Ala247Ser
NM_022406.3:c.739G>T NP_071801.1:p.Ala247Ser
NM_022550.3:c.739G>T NP_072044.1:p.Ala247Ser
XM_017009827.2:c.739G>T XP_016865316.1:p.Ala247Ser
XM_017009828.2:c.739G>T XP_016865317.1:p.Ala247Ser
XM_017009829.2:c.739G>T XP_016865318.1:p.Ala247Ser
NM_001318012.2:c.739G>T NP_001304941.1:p.Ala247Ser
NM_001318013.2:c.739G>T NP_001304942.1:p.Ala247Ser
NM_003401.5:c.739G>T MANE Select NP_003392.1:p.Ala247Ser
NM_022406.4:c.739G>T NP_071801.1:p.Ala247Ser
NM_001318012.3:c.739G>T NP_001304941.1:p.Ala247Ser
NM_022406.5:c.739G>T NP_071801.1:p.Ala247Ser
NM_022550.4:c.739G>T NP_072044.1:p.Ala247Ser