Canonical Allele Identifier: CA118975
Gene: LIG4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7673
dbSNP Id: rs104894419

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.108208829G>A , CM000675.2:g.108208829G>A GRCh38
NC_000013.10:g.108861177G>A , CM000675.1:g.108861177G>A GRCh37
NC_000013.9:g.107659178G>A NCBI36
NG_007396.1:g.11706C>T , LRG_79:g.11706C>T

Transcript Alleles

HGVS Amino-acid change
NM_001098268.1:c.2440C>T VV NP_001091738.1:p.Arg814Ter
NM_002312.3:c.2440C>T , LRG_79t1:c.2440C>T NP_002303.2:p.Arg814Ter
NM_206937.1:c.2440C>T VV NP_996820.1:p.Arg814Ter
XM_005254056.1:c.2440C>T XP_005254113.1:p.Arg814Ter
XM_005254057.3:c.2440C>T XP_005254114.1:p.Arg814Ter
XM_005254058.2:c.2440C>T XP_005254115.1:p.Arg814Ter
XM_006719951.2:c.2440C>T XP_006720014.1:p.Arg814Ter
XM_006719952.1:c.2440C>T XP_006720015.1:p.Arg814Ter
XM_011521091.1:c.2440C>T XP_011519393.1:p.Arg814Ter
XM_011521092.1:c.2440C>T XP_011519394.1:p.Arg814Ter
NM_001330595.1:c.2239C>T VV NP_001317524.1:p.Arg747Ter
NM_001352598.1:c.2440C>T VV NP_001339527.1:p.Arg814Ter
NM_001352599.1:c.2440C>T VV NP_001339528.1:p.Arg814Ter
NM_001352600.1:c.2440C>T VV NP_001339529.1:p.Arg814Ter
NM_001352601.1:c.2440C>T VV NP_001339530.1:p.Arg814Ter
NM_001352602.1:c.2440C>T VV NP_001339531.1:p.Arg814Ter
NM_001352603.1:c.2440C>T VV NP_001339532.1:p.Arg814Ter
NM_001352604.1:c.2476C>T VV NP_001339533.1:p.Arg826Ter
XM_005254058.4:c.2440C>T XP_005254115.1:p.Arg814Ter
XM_006719951.3:c.2440C>T XP_006720014.1:p.Arg814Ter
XM_017020564.1:c.2476C>T XP_016876053.1:p.Arg826Ter
XM_017020565.1:c.2476C>T XP_016876054.1:p.Arg826Ter
XM_017020566.1:c.2476C>T XP_016876055.1:p.Arg826Ter
XM_017020568.2:c.2452C>T XP_016876057.1:p.Arg818Ter
XM_017020571.1:c.2440C>T XP_016876060.1:p.Arg814Ter
XM_017020573.1:c.2239C>T XP_016876062.1:p.Arg747Ter
ENST00000356922.5:c.2440C>T ENSP00000349393.3:p.Arg814Ter
ENST00000405925.2:c.2440C>T ENSP00000385955.1:p.Arg814Ter
ENST00000442234.5:c.2440C>T ENSP00000402030.1:p.Arg814Ter
ENST00000611712.4:c.2440C>T ENSP00000484288.1:p.Arg814Ter
ENST00000614526.1:c.2239C>T ENSP00000480814.1:p.Arg747Ter