Canonical Allele Identifier: CA248735

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 134128
• ClinVar RCV Id: RCV000120800 ; RCV000765502 ; RCV001129472 ; RCV001294157 ; RCV001362006 ; RCV002257425 ; RCV004019680
• dbSNP Id: rs145201970
• ExAC: 2:128046416 G / A
• gnomAD v2: 2-128046416-G-A
• gnomAD v3: 2-127288840-G-A
• gnomAD v4: 2-127288840-G-A
• MyVariant Identifiers: chr2:g.128046416G>A (hg19) ; chr2:g.127288840G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127288840G>A , CM000664.2:g.127288840G>A	GRCh38
NC_000002.11:g.128046416G>A , CM000664.1:g.128046416G>A	GRCh37
NC_000002.10:g.127762886G>A	NCBI36
NG_007454.1:g.10337C>T , LRG_462:g.10337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.847C>T MANE Select	ENSP00000285398.2:p.Arg283Cys
ENST00000643982.1:n.444C>T
ENST00000644317.1:c.*336C>T	ENSP00000494012.1:n.*336C>T
ENST00000645233.1:c.*1059C>T	ENSP00000494116.1:n.*1059C>T
ENST00000645467.1:c.847C>T	ENSP00000494889.1:p.Arg283Cys
ENST00000645736.1:c.703C>T	ENSP00000494545.1:p.Arg235Cys
ENST00000646042.1:n.1582C>T
ENST00000646654.1:c.*314C>T	ENSP00000494526.1:n.*314C>T
ENST00000647169.1:c.847C>T	ENSP00000495619.1:p.Arg283Cys
ENST00000647496.1:c.395+497C>T
ENST00000285398.6:c.847C>T	ENSP00000285398.2:p.Arg283Cys
ENST00000426778.5:c.*828C>T	ENSP00000415335.1:n.*828C>T
ENST00000445889.5:c.*890C>T	ENSP00000390888.1:n.*890C>T
ENST00000456257.1:c.396C>T
ENST00000494464.5:n.918C>T
NM_000122.1:c.847C>T , LRG_462t1:c.847C>T	NP_000113.1:p.Arg283Cys
NM_001303416.1:c.655C>T	NP_001290345.1:p.Arg219Cys
NM_001303418.1:c.655C>T	NP_001290347.1:p.Arg219Cys
XM_011510794.1:c.865C>T	XP_011509096.1:p.Arg289Cys
XM_011510795.1:c.409C>T	XP_011509097.1:p.Arg137Cys
XM_011510794.2:c.865C>T	XP_011509096.1:p.Arg289Cys
XM_017003583.1:c.391C>T	XP_016859072.1:p.Arg131Cys
NM_000122.2:c.847C>T MANE Select	NP_000113.1:p.Arg283Cys
NM_001303416.2:c.655C>T	NP_001290345.1:p.Arg219Cys
NM_001303418.2:c.655C>T	NP_001290347.1:p.Arg219Cys