Canonical Allele Identifier: CA348391518

Gene: ERCC3

Linked Data

• dbSNP Id: rs1685310902
• gnomAD v4: 2-127292639-C-T
• MyVariant Identifiers: chr2:g.128050215C>T (hg19) ; chr2:g.127292639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292639C>T , CM000664.2:g.127292639C>T	GRCh38
NC_000002.11:g.128050215C>T , CM000664.1:g.128050215C>T	GRCh37
NC_000002.10:g.127766685C>T	NCBI36
NG_007454.1:g.6538G>A , LRG_462:g.6538G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.442G>A MANE Select	ENSP00000285398.2:p.Val148Ile
ENST00000642308.1:c.442G>A	ENSP00000496684.1:p.Val148Ile
ENST00000644317.1:c.300G>A	ENSP00000494012.1:p.Glu100=
ENST00000645233.1:c.442G>A	ENSP00000494116.1:p.Val148Ile
ENST00000645467.1:c.442G>A	ENSP00000494889.1:p.Val148Ile
ENST00000645736.1:c.298G>A	ENSP00000494545.1:p.Val100Ile
ENST00000646654.1:c.442G>A	ENSP00000494526.1:p.Val148Ile
ENST00000647169.1:c.442G>A	ENSP00000495619.1:p.Val148Ile
ENST00000647496.1:c.15G>A
ENST00000285398.6:c.442G>A	ENSP00000285398.2:p.Val148Ile
ENST00000426778.5:c.*423G>A	ENSP00000415335.1:n.*423G>A
ENST00000445889.5:c.*485G>A	ENSP00000390888.1:n.*485G>A
ENST00000462306.5:n.356G>A
ENST00000490062.1:n.372G>A
ENST00000494464.5:n.326G>A
NM_000122.1:c.442G>A , LRG_462t1:c.442G>A	NP_000113.1:p.Val148Ile
NM_001303416.1:c.250G>A	NP_001290345.1:p.Val84Ile
NM_001303418.1:c.250G>A	NP_001290347.1:p.Val84Ile
XM_011510794.1:c.442G>A	XP_011509096.1:p.Val148Ile
XM_011510795.1:c.-15G>A	XP_011509097.1:n.-15G>A
XM_011510794.2:c.442G>A	XP_011509096.1:p.Val148Ile
XM_017003583.1:c.-15G>A	XP_016859072.1:n.-15G>A
NM_000122.2:c.442G>A MANE Select	NP_000113.1:p.Val148Ile
NM_001303416.2:c.250G>A	NP_001290345.1:p.Val84Ile
NM_001303418.2:c.250G>A	NP_001290347.1:p.Val84Ile