Canonical Allele Identifier: CA55342607
Gene: ERCC3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.127292492C>T
GRCh37 chr2:g.128050068C>T
gnomAD v2:
2:128050068 C / T
gnomAD v3:
2:127292492 C / T
gnomAD v4:
chr2-127292492-C-T
Joint Max Group AF 0.08152999 (NFE)
Genomes Max Group AF 0.08174078 (NFE)
Exomes Max Group AF 0.08123544 (NFE)
ClinVar RCV:
RCV001621455
ClinVar Variation:
1234691
dbSNP:
4150403
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127292492C>T , CM000664.2:g.127292492C>T GRCh38
NC_000002.11:g.128050068C>T , CM000664.1:g.128050068C>T GRCh37
NC_000002.10:g.127766538C>T NCBI36
NG_007454.1:g.6685G>A , LRG_462:g.6685G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000285398.7:c.471+118G>A MANE Select ENSP00000285398.2:n.471+118G>A
ENST00000642308.1:c.*103G>A ENSP00000496684.1:n.*103G>A
ENST00000644317.1:c.329+118G>A ENSP00000494012.1:n.329+118G>A
ENST00000645233.1:c.*103G>A ENSP00000494116.1:n.*103G>A
ENST00000645467.1:c.471+118G>A ENSP00000494889.1:n.471+118G>A
ENST00000645736.1:c.327+118G>A ENSP00000494545.1:n.327+118G>A
ENST00000646654.1:c.471+118G>A ENSP00000494526.1:n.471+118G>A
ENST00000647169.1:c.471+118G>A ENSP00000495619.1:n.471+118G>A
ENST00000647496.1:c.44+118G>A
ENST00000285398.6:c.471+118G>A ENSP00000285398.2:n.471+118G>A
ENST00000426778.5:c.*452+118G>A ENSP00000415335.1:n.*452+118G>A
ENST00000445889.5:c.*514+118G>A ENSP00000390888.1:n.*514+118G>A
ENST00000462306.5:n.385+118G>A
ENST00000490062.1:n.519G>A
ENST00000494464.5:n.355+118G>A
NM_000122.1:c.471+118G>A , LRG_462t1:c.471+118G>A NP_000113.1:n.471+118G>A
NM_001303416.1:c.279+118G>A NP_001290345.1:n.279+118G>A
NM_001303418.1:c.279+118G>A NP_001290347.1:n.279+118G>A
XM_011510794.1:c.471+118G>A XP_011509096.1:n.471+118G>A
XM_011510795.1:c.15+118G>A XP_011509097.1:n.15+118G>A
XM_011510794.2:c.471+118G>A XP_011509096.1:n.471+118G>A
XM_017003583.1:c.15+118G>A XP_016859072.1:n.15+118G>A
NM_000122.2:c.471+118G>A MANE Select NP_000113.1:n.471+118G>A
NM_001303416.2:c.279+118G>A NP_001290345.1:n.279+118G>A
NM_001303418.2:c.279+118G>A NP_001290347.1:n.279+118G>A
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