Canonical Allele Identifier: CA7043543

Gene: LIG4

Linked Data

• ClinVar Variation Id: 310979
• ClinVar RCV Id: RCV000337673 ; RCV000393674 ; RCV003238753 ; RCV002520851
• dbSNP Id: rs143767581
• ExAC: 13:108861395 C / T
• gnomAD v2: 13-108861395-C-T
• gnomAD v3: 13-108209047-C-T
• gnomAD v4: 13-108209047-C-T
• COSMIC: COSM3688593
• MyVariant Identifiers: chr13:g.108861395C>T (hg19) ; chr13:g.108209047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.108209047C>T , CM000675.2:g.108209047C>T	GRCh38
NC_000013.10:g.108861395C>T , CM000675.1:g.108861395C>T	GRCh37
NC_000013.9:g.107659396C>T	NCBI36
NG_007396.1:g.11488G>A , LRG_79:g.11488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614526.2:c.2021G>A	ENSP00000480814.1:p.Arg674His
ENST00000685338.1:c.2222G>A	ENSP00000510567.1:p.Arg741His
ENST00000686095.1:c.2222G>A	ENSP00000509942.1:p.Arg741His
ENST00000686204.1:c.2222G>A	ENSP00000509685.1:p.Arg741His
ENST00000686913.1:c.2222G>A	ENSP00000509299.1:p.Arg741His
ENST00000686926.1:c.2222G>A	ENSP00000509122.1:p.Arg741His
ENST00000687164.1:c.2222G>A	ENSP00000508512.1:p.Arg741His
ENST00000687822.1:c.2222G>A	ENSP00000509344.1:p.Arg741His
ENST00000688396.1:c.2222G>A	ENSP00000509564.1:p.Arg741His
ENST00000688455.1:c.2222G>A	ENSP00000509304.1:p.Arg741His
ENST00000688529.1:c.2222G>A	ENSP00000509906.1:p.Arg741His
ENST00000688595.1:c.2222G>A	ENSP00000509502.1:p.Arg741His
ENST00000689762.1:c.2021G>A	ENSP00000508867.1:p.Arg674His
ENST00000690127.1:c.2021G>A	ENSP00000509468.1:p.Arg674His
ENST00000692222.1:c.2222G>A	ENSP00000509226.1:p.Arg741His
ENST00000693040.1:c.2222G>A	ENSP00000510014.1:p.Arg741His
ENST00000442234.6:c.2222G>A MANE Select	ENSP00000402030.1:p.Arg741His
ENST00000356922.5:c.2222G>A	ENSP00000349393.3:p.Arg741His
ENST00000405925.2:c.2222G>A	ENSP00000385955.1:p.Arg741His
ENST00000442234.5:c.2222G>A	ENSP00000402030.1:p.Arg741His
ENST00000611712.4:c.2222G>A	ENSP00000484288.1:p.Arg741His
ENST00000614526.1:c.2021G>A	ENSP00000480814.1:p.Arg674His
NM_001098268.1:c.2222G>A	NP_001091738.1:p.Arg741His
NM_002312.3:c.2222G>A , LRG_79t1:c.2222G>A	NP_002303.2:p.Arg741His
NM_206937.1:c.2222G>A	NP_996820.1:p.Arg741His
XM_005254056.1:c.2222G>A	XP_005254113.1:p.Arg741His
XM_005254057.3:c.2222G>A	XP_005254114.1:p.Arg741His
XM_005254058.2:c.2222G>A	XP_005254115.1:p.Arg741His
XM_006719951.2:c.2222G>A	XP_006720014.1:p.Arg741His
XM_006719952.1:c.2222G>A	XP_006720015.1:p.Arg741His
XM_011521091.1:c.2222G>A	XP_011519393.1:p.Arg741His
XM_011521092.1:c.2222G>A	XP_011519394.1:p.Arg741His
NM_001330595.1:c.2021G>A	NP_001317524.1:p.Arg674His
NM_001352598.1:c.2222G>A	NP_001339527.1:p.Arg741His
NM_001352599.1:c.2222G>A	NP_001339528.1:p.Arg741His
NM_001352600.1:c.2222G>A	NP_001339529.1:p.Arg741His
NM_001352601.1:c.2222G>A	NP_001339530.1:p.Arg741His
NM_001352602.1:c.2222G>A	NP_001339531.1:p.Arg741His
NM_001352603.1:c.2222G>A	NP_001339532.1:p.Arg741His
NM_001352604.1:c.2258G>A	NP_001339533.1:p.Arg753His
XM_005254058.4:c.2222G>A	XP_005254115.1:p.Arg741His
XM_006719951.3:c.2222G>A	XP_006720014.1:p.Arg741His
XM_017020564.1:c.2258G>A	XP_016876053.1:p.Arg753His
XM_017020565.1:c.2258G>A	XP_016876054.1:p.Arg753His
XM_017020566.1:c.2258G>A	XP_016876055.1:p.Arg753His
XM_017020568.2:c.2234G>A	XP_016876057.1:p.Arg745His
XM_017020571.1:c.2222G>A	XP_016876060.1:p.Arg741His
XM_017020573.1:c.2021G>A	XP_016876062.1:p.Arg674His
NM_001098268.2:c.2222G>A	NP_001091738.1:p.Arg741His
NM_001352598.2:c.2222G>A	NP_001339527.1:p.Arg741His
NM_001352599.2:c.2222G>A	NP_001339528.1:p.Arg741His
NM_001352600.2:c.2222G>A	NP_001339529.1:p.Arg741His
NM_001352601.2:c.2222G>A	NP_001339530.1:p.Arg741His
NM_001352602.2:c.2222G>A	NP_001339531.1:p.Arg741His
NM_206937.2:c.2222G>A MANE Select	NP_996820.1:p.Arg741His
NM_001330595.2:c.2021G>A	NP_001317524.1:p.Arg674His
NM_001352604.2:c.2258G>A	NP_001339533.1:p.Arg753His
NM_001379095.1:c.2222G>A	NP_001366024.1:p.Arg741His