Canonical Allele Identifier: CA1858192

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 331078
• ClinVar RCV Id: RCV000362103 ; RCV002057568
• dbSNP Id: rs746754189
• ExAC: 2:128030548 A / G
• gnomAD v2: 2-128030548-A-G
• gnomAD v3: 2-127272972-A-G
• gnomAD v4: 2-127272972-A-G
• MyVariant Identifiers: chr2:g.128030548A>G (hg19) ; chr2:g.127272972A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127272972A>G , CM000664.2:g.127272972A>G	GRCh38
NC_000002.11:g.128030548A>G , CM000664.1:g.128030548A>G	GRCh37
NC_000002.10:g.127747018A>G	NCBI36
NG_007454.1:g.26205T>C , LRG_462:g.26205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.1731-11T>C MANE Select	ENSP00000285398.2:n.1731-11T>C
ENST00000642972.1:n.90-11T>C
ENST00000644317.1:c.*1220-11T>C	ENSP00000494012.1:n.*1220-11T>C
ENST00000645233.1:c.*1943-11T>C	ENSP00000494116.1:n.*1943-11T>C
ENST00000645467.1:c.*503-11T>C	ENSP00000494889.1:n.*503-11T>C
ENST00000645504.1:c.484-1519T>C
ENST00000645736.1:c.1402-11T>C	ENSP00000494545.1:n.1402-11T>C
ENST00000646042.1:n.2466-11T>C
ENST00000646654.1:c.*1198-11T>C	ENSP00000494526.1:n.*1198-11T>C
ENST00000647169.1:c.1806-11T>C	ENSP00000495619.1:n.1806-11T>C
ENST00000647496.1:c.396-15370T>C
ENST00000285398.6:c.1731-11T>C	ENSP00000285398.2:n.1731-11T>C
ENST00000426778.5:c.*1712-11T>C	ENSP00000415335.1:n.*1712-11T>C
ENST00000445889.5:c.*1774-11T>C	ENSP00000390888.1:n.*1774-11T>C
NM_000122.1:c.1731-11T>C , LRG_462t1:c.1731-11T>C	NP_000113.1:n.1731-11T>C
NM_001303416.1:c.1539-11T>C	NP_001290345.1:n.1539-11T>C
NM_001303418.1:c.1539-11T>C	NP_001290347.1:n.1539-11T>C
XM_011510794.1:c.1749-11T>C	XP_011509096.1:n.1749-11T>C
XM_011510795.1:c.1293-11T>C	XP_011509097.1:n.1293-11T>C
XM_011510794.2:c.1749-11T>C	XP_011509096.1:n.1749-11T>C
XM_017003583.1:c.1275-11T>C	XP_016859072.1:n.1275-11T>C
NM_000122.2:c.1731-11T>C MANE Select	NP_000113.1:n.1731-11T>C
NM_001303416.2:c.1539-11T>C	NP_001290345.1:n.1539-11T>C
NM_001303418.2:c.1539-11T>C	NP_001290347.1:n.1539-11T>C