Canonical Allele Identifier: CA158821

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 134118
• ClinVar RCV Id: RCV000120790 ; RCV001462857 ; RCV002258798 ; RCV003915201
• dbSNP Id: rs568193912
• ExAC: 2:128018908 C / T
• gnomAD v2: 2-128018908-C-T
• gnomAD v3: 2-127261332-C-T
• gnomAD v4: 2-127261332-C-T
• MyVariant Identifiers: chr2:g.128018908C>T (hg19) ; chr2:g.127261332C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127261332C>T , CM000664.2:g.127261332C>T	GRCh38
NC_000002.11:g.128018908C>T , CM000664.1:g.128018908C>T	GRCh37
NC_000002.10:g.127735378C>T	NCBI36
NG_007454.1:g.37845G>A , LRG_462:g.37845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.1960G>A MANE Select	ENSP00000285398.2:p.Glu654Lys
ENST00000642972.1:n.319G>A
ENST00000644317.1:c.*1449G>A	ENSP00000494012.1:n.*1449G>A
ENST00000645233.1:c.*2172G>A	ENSP00000494116.1:n.*2172G>A
ENST00000645467.1:c.*732G>A	ENSP00000494889.1:n.*732G>A
ENST00000645504.1:c.616G>A
ENST00000645736.1:c.1631G>A	ENSP00000494545.1:n.1631G>A
ENST00000646042.1:n.2695G>A
ENST00000646654.1:c.*1427G>A	ENSP00000494526.1:n.*1427G>A
ENST00000647169.1:c.2035G>A	ENSP00000495619.1:p.Glu679Lys
ENST00000647496.1:c.396-3730G>A
ENST00000285398.6:c.1960G>A	ENSP00000285398.2:p.Glu654Lys
ENST00000426778.5:c.*1941G>A	ENSP00000415335.1:n.*1941G>A
ENST00000445889.5:c.*2003G>A	ENSP00000390888.1:n.*2003G>A
ENST00000491292.5:n.1551G>A
NM_000122.1:c.1960G>A , LRG_462t1:c.1960G>A	NP_000113.1:p.Glu654Lys
NM_001303416.1:c.1768G>A	NP_001290345.1:p.Glu590Lys
NM_001303418.1:c.1768G>A	NP_001290347.1:p.Glu590Lys
XM_011510794.1:c.1978G>A	XP_011509096.1:p.Glu660Lys
XM_011510795.1:c.1522G>A	XP_011509097.1:p.Glu508Lys
XM_011510794.2:c.1978G>A	XP_011509096.1:p.Glu660Lys
XM_017003583.1:c.1504G>A	XP_016859072.1:p.Glu502Lys
NM_000122.2:c.1960G>A MANE Select	NP_000113.1:p.Glu654Lys
NM_001303416.2:c.1768G>A	NP_001290345.1:p.Glu590Lys
NM_001303418.2:c.1768G>A	NP_001290347.1:p.Glu590Lys