Canonical Allele Identifier: CA1858359

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 331084
• ClinVar RCV Id: RCV000373572 ; RCV001372395
• dbSNP Id: rs754010782
• ExAC: 2:128044543 G / A
• gnomAD v2: 2-128044543-G-A
• gnomAD v3: 2-127286967-G-A
• gnomAD v4: 2-127286967-G-A
• COSMIC: COSM280850
• MyVariant Identifiers: chr2:g.128044543G>A (hg19) ; chr2:g.127286967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127286967G>A , CM000664.2:g.127286967G>A	GRCh38
NC_000002.11:g.128044543G>A , CM000664.1:g.128044543G>A	GRCh37
NC_000002.10:g.127761013G>A	NCBI36
NG_007454.1:g.12210C>T , LRG_462:g.12210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.1078C>T MANE Select	ENSP00000285398.2:p.Arg360Cys
ENST00000644317.1:c.*567C>T	ENSP00000494012.1:n.*567C>T
ENST00000645233.1:c.*1290C>T	ENSP00000494116.1:n.*1290C>T
ENST00000645467.1:c.1078C>T	ENSP00000494889.1:p.Arg360Cys
ENST00000645736.1:c.934C>T	ENSP00000494545.1:p.Arg312Cys
ENST00000646042.1:n.1813C>T
ENST00000646654.1:c.*545C>T	ENSP00000494526.1:n.*545C>T
ENST00000647169.1:c.1078C>T	ENSP00000495619.1:p.Arg360Cys
ENST00000647496.1:c.395+2370C>T
ENST00000285398.6:c.1078C>T	ENSP00000285398.2:p.Arg360Cys
ENST00000426778.5:c.*1059C>T	ENSP00000415335.1:n.*1059C>T
ENST00000445889.5:c.*1121C>T	ENSP00000390888.1:n.*1121C>T
ENST00000494464.5:n.1149C>T
NM_000122.1:c.1078C>T , LRG_462t1:c.1078C>T	NP_000113.1:p.Arg360Cys
NM_001303416.1:c.886C>T	NP_001290345.1:p.Arg296Cys
NM_001303418.1:c.886C>T	NP_001290347.1:p.Arg296Cys
XM_011510794.1:c.1096C>T	XP_011509096.1:p.Arg366Cys
XM_011510795.1:c.640C>T	XP_011509097.1:p.Arg214Cys
XM_011510794.2:c.1096C>T	XP_011509096.1:p.Arg366Cys
XM_017003583.1:c.622C>T	XP_016859072.1:p.Arg208Cys
NM_000122.2:c.1078C>T MANE Select	NP_000113.1:p.Arg360Cys
NM_001303416.2:c.886C>T	NP_001290345.1:p.Arg296Cys
NM_001303418.2:c.886C>T	NP_001290347.1:p.Arg296Cys