Canonical Allele Identifier: CA1858557

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 331091
• ClinVar RCV Id: RCV002256209 ; RCV002521284
• dbSNP Id: rs145762413
• ExAC: 2:128050272 C / T
• gnomAD v2: 2-128050272-C-T
• gnomAD v3: 2-127292696-C-T
• gnomAD v4: 2-127292696-C-T
• MyVariant Identifiers: chr2:g.128050272C>T (hg19) ; chr2:g.127292696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292696C>T , CM000664.2:g.127292696C>T	GRCh38
NC_000002.11:g.128050272C>T , CM000664.1:g.128050272C>T	GRCh37
NC_000002.10:g.127766742C>T	NCBI36
NG_007454.1:g.6481G>A , LRG_462:g.6481G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.385G>A MANE Select	ENSP00000285398.2:p.Val129Ile
ENST00000642308.1:c.385G>A	ENSP00000496684.1:p.Val129Ile
ENST00000644317.1:c.243G>A	ENSP00000494012.1:p.Ala81=
ENST00000645233.1:c.385G>A	ENSP00000494116.1:p.Val129Ile
ENST00000645467.1:c.385G>A	ENSP00000494889.1:p.Val129Ile
ENST00000645736.1:c.241G>A	ENSP00000494545.1:p.Val81Ile
ENST00000646654.1:c.385G>A	ENSP00000494526.1:p.Val129Ile
ENST00000647169.1:c.385G>A	ENSP00000495619.1:p.Val129Ile
ENST00000285398.6:c.385G>A	ENSP00000285398.2:p.Val129Ile
ENST00000426778.5:c.*366G>A	ENSP00000415335.1:n.*366G>A
ENST00000445889.5:c.*428G>A	ENSP00000390888.1:n.*428G>A
ENST00000462306.5:n.299G>A
ENST00000490062.1:n.315G>A
ENST00000494464.5:n.269G>A
NM_000122.1:c.385G>A , LRG_462t1:c.385G>A	NP_000113.1:p.Val129Ile
NM_001303416.1:c.193G>A	NP_001290345.1:p.Val65Ile
NM_001303418.1:c.193G>A	NP_001290347.1:p.Val65Ile
XM_011510794.1:c.385G>A	XP_011509096.1:p.Val129Ile
XM_011510795.1:c.-72G>A	XP_011509097.1:n.-72G>A
XM_011510794.2:c.385G>A	XP_011509096.1:p.Val129Ile
XM_017003583.1:c.-72G>A	XP_016859072.1:n.-72G>A
NM_000122.2:c.385G>A MANE Select	NP_000113.1:p.Val129Ile
NM_001303416.2:c.193G>A	NP_001290345.1:p.Val65Ile
NM_001303418.2:c.193G>A	NP_001290347.1:p.Val65Ile