Canonical Allele Identifier: CA1858466

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 512671
• ClinVar RCV Id: RCV000612099 ; RCV001480670 ; RCV002256408
• dbSNP Id: rs200361738
• ExAC: 2:128047084 G / C
• gnomAD v2: 2-128047084-G-C
• gnomAD v3: 2-127289508-G-C
• gnomAD v4: 2-127289508-G-C
• MyVariant Identifiers: chr2:g.128047084G>C (hg19) ; chr2:g.127289508G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127289508G>C , CM000664.2:g.127289508G>C	GRCh38
NC_000002.11:g.128047084G>C , CM000664.1:g.128047084G>C	GRCh37
NC_000002.10:g.127763554G>C	NCBI36
NG_007454.1:g.9669C>G , LRG_462:g.9669C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.658-7C>G MANE Select	ENSP00000285398.2:n.658-7C>G
ENST00000642308.1:c.*698-7C>G	ENSP00000496684.1:n.*698-7C>G
ENST00000643982.1:n.255-7C>G
ENST00000644317.1:c.*147-7C>G	ENSP00000494012.1:n.*147-7C>G
ENST00000645233.1:c.*870-7C>G	ENSP00000494116.1:n.*870-7C>G
ENST00000645467.1:c.658-7C>G	ENSP00000494889.1:n.658-7C>G
ENST00000645736.1:c.514-7C>G	ENSP00000494545.1:n.514-7C>G
ENST00000646042.1:n.1386C>G
ENST00000646654.1:c.*125-7C>G	ENSP00000494526.1:n.*125-7C>G
ENST00000647169.1:c.658-7C>G	ENSP00000495619.1:n.658-7C>G
ENST00000647496.1:c.231-7C>G
ENST00000285398.6:c.658-7C>G	ENSP00000285398.2:n.658-7C>G
ENST00000426778.5:c.*639-7C>G	ENSP00000415335.1:n.*639-7C>G
ENST00000445889.5:c.*701-7C>G	ENSP00000390888.1:n.*701-7C>G
ENST00000456257.1:c.200C>G
ENST00000460485.1:n.683C>G
ENST00000494464.5:n.722C>G
NM_000122.1:c.658-7C>G , LRG_462t1:c.658-7C>G	NP_000113.1:n.658-7C>G
NM_001303416.1:c.466-7C>G	NP_001290345.1:n.466-7C>G
NM_001303418.1:c.466-7C>G	NP_001290347.1:n.466-7C>G
XM_011510794.1:c.669C>G	XP_011509096.1:p.Leu223=
XM_011510795.1:c.213C>G	XP_011509097.1:p.Leu71=
XM_011510794.2:c.669C>G	XP_011509096.1:p.Leu223=
XM_017003583.1:c.202-7C>G	XP_016859072.1:n.202-7C>G
NM_000122.2:c.658-7C>G MANE Select	NP_000113.1:n.658-7C>G
NM_001303416.2:c.466-7C>G	NP_001290345.1:n.466-7C>G
NM_001303418.2:c.466-7C>G	NP_001290347.1:n.466-7C>G