Canonical Allele Identifier: CA360356912
Gene: XRCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1245127767
gnomAD v2: 5-82406882-A-G
gnomAD v3: 5-83111063-A-G
gnomAD v4: 5-83111063-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.83111063A>G , CM000667.2:g.83111063A>G GRCh38
NC_000005.9:g.82406882A>G , CM000667.1:g.82406882A>G GRCh37
NC_000005.8:g.82442638A>G NCBI36
NG_047086.1:g.38655A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000396027.9:c.175A>G MANE Select ENSP00000379344.4:p.Met59Val
ENST00000282268.7:c.175A>G ENSP00000282268.3:p.Met59Val
ENST00000338635.10:c.175A>G ENSP00000342011.6:p.Met59Val
ENST00000396027.8:c.175A>G ENSP00000379344.4:p.Met59Val
ENST00000509268.1:n.187A>G
ENST00000511817.1:c.175A>G ENSP00000421491.1:p.Met59Val
ENST00000542685.5:n.244A>G
NM_003401.3:c.175A>G NP_003392.1:p.Met59Val
NM_022406.2:c.175A>G NP_071801.1:p.Met59Val
NM_022550.2:c.175A>G NP_072044.1:p.Met59Val
XM_005248595.1:c.175A>G XP_005248652.1:p.Met59Val
XM_011543626.1:c.175A>G XP_011541928.1:p.Met59Val
XM_011543627.1:c.175A>G XP_011541929.1:p.Met59Val
XM_011543628.1:c.175A>G XP_011541930.1:p.Met59Val
NM_001318012.1:c.175A>G NP_001304941.1:p.Met59Val
NM_001318013.1:c.175A>G NP_001304942.1:p.Met59Val
NM_003401.4:c.175A>G NP_003392.1:p.Met59Val
NM_022406.3:c.175A>G NP_071801.1:p.Met59Val
NM_022550.3:c.175A>G NP_072044.1:p.Met59Val
XM_017009827.2:c.175A>G XP_016865316.1:p.Met59Val
XM_017009828.2:c.175A>G XP_016865317.1:p.Met59Val
XM_017009829.2:c.175A>G XP_016865318.1:p.Met59Val
NM_001318012.2:c.175A>G NP_001304941.1:p.Met59Val
NM_001318013.2:c.175A>G NP_001304942.1:p.Met59Val
NM_003401.5:c.175A>G MANE Select NP_003392.1:p.Met59Val
NM_022406.4:c.175A>G NP_071801.1:p.Met59Val
NM_001318012.3:c.175A>G NP_001304941.1:p.Met59Val
NM_022406.5:c.175A>G NP_071801.1:p.Met59Val
NM_022550.4:c.175A>G NP_072044.1:p.Met59Val