Canonical Allele Identifier: CA158845

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 134126
• ClinVar RCV Id: RCV000120798
• dbSNP Id: rs1805161
• ExAC: 2:128050307 T / C
• gnomAD v2: 2-128050307-T-C
• gnomAD v3: 2-127292731-T-C
• gnomAD v4: 2-127292731-T-C
• MyVariant Identifiers: chr2:g.128050307T>C (hg19) ; chr2:g.127292731T>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292731T>C , CM000664.2:g.127292731T>C	GRCh38
NC_000002.11:g.128050307T>C , CM000664.1:g.128050307T>C	GRCh37
NC_000002.10:g.127766777T>C	NCBI36
NG_007454.1:g.6446A>G , LRG_462:g.6446A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.350A>G MANE Select	ENSP00000285398.2:p.Lys117Arg
ENST00000642308.1:c.350A>G	ENSP00000496684.1:p.Lys117Arg
ENST00000644317.1:c.235-27A>G	ENSP00000494012.1:n.235-27A>G
ENST00000645233.1:c.350A>G	ENSP00000494116.1:p.Lys117Arg
ENST00000645467.1:c.350A>G	ENSP00000494889.1:p.Lys117Arg
ENST00000645736.1:c.206A>G	ENSP00000494545.1:p.Lys69Arg
ENST00000646654.1:c.350A>G	ENSP00000494526.1:p.Lys117Arg
ENST00000647169.1:c.350A>G	ENSP00000495619.1:p.Lys117Arg
ENST00000285398.6:c.350A>G	ENSP00000285398.2:p.Lys117Arg
ENST00000426778.5:c.*331A>G	ENSP00000415335.1:n.*331A>G
ENST00000445889.5:c.*393A>G	ENSP00000390888.1:n.*393A>G
ENST00000462306.5:n.291-27A>G
ENST00000490062.1:n.307-27A>G
ENST00000494464.5:n.261-27A>G
NM_000122.1:c.350A>G , LRG_462t1:c.350A>G	NP_000113.1:p.Lys117Arg
NM_001303416.1:c.158A>G	NP_001290345.1:p.Lys53Arg
NM_001303418.1:c.158A>G	NP_001290347.1:p.Lys53Arg
XM_011510794.1:c.350A>G	XP_011509096.1:p.Lys117Arg
XM_011510795.1:c.-80-27A>G	XP_011509097.1:n.-80-27A>G
XM_011510794.2:c.350A>G	XP_011509096.1:p.Lys117Arg
XM_017003583.1:c.-80-27A>G	XP_016859072.1:n.-80-27A>G
NM_000122.2:c.350A>G MANE Select	NP_000113.1:p.Lys117Arg
NM_001303416.2:c.158A>G	NP_001290345.1:p.Lys53Arg
NM_001303418.2:c.158A>G	NP_001290347.1:p.Lys53Arg