Canonical Allele Identifier: CA428615933

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 2092655
• ClinVar RCV Id: RCV003018311
• dbSNP Id: rs1685314733
• gnomAD v3: 2-127292727-T-G
• gnomAD v4: 2-127292727-T-G
• MyVariant Identifiers: chr2:g.128050303T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292727T>G , CM000664.2:g.127292727T>G	GRCh38
NC_000002.11:g.128050303T>G , CM000664.1:g.128050303T>G	GRCh37
NC_000002.10:g.127766773T>G	NCBI36
NG_007454.1:g.6450A>C , LRG_462:g.6450A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.354A>C MANE Select	ENSP00000285398.2:p.Leu118=
ENST00000642308.1:c.354A>C	ENSP00000496684.1:p.Leu118=
ENST00000644317.1:c.235-23A>C	ENSP00000494012.1:n.235-23A>C
ENST00000645233.1:c.354A>C	ENSP00000494116.1:p.Leu118=
ENST00000645467.1:c.354A>C	ENSP00000494889.1:p.Leu118=
ENST00000645736.1:c.210A>C	ENSP00000494545.1:p.Leu70=
ENST00000646654.1:c.354A>C	ENSP00000494526.1:p.Leu118=
ENST00000647169.1:c.354A>C	ENSP00000495619.1:p.Leu118=
ENST00000285398.6:c.354A>C	ENSP00000285398.2:p.Leu118=
ENST00000426778.5:c.*335A>C	ENSP00000415335.1:n.*335A>C
ENST00000445889.5:c.*397A>C	ENSP00000390888.1:n.*397A>C
ENST00000462306.5:n.291-23A>C
ENST00000490062.1:n.307-23A>C
ENST00000494464.5:n.261-23A>C
NM_000122.1:c.354A>C , LRG_462t1:c.354A>C	NP_000113.1:p.Leu118=
NM_001303416.1:c.162A>C	NP_001290345.1:p.Leu54=
NM_001303418.1:c.162A>C	NP_001290347.1:p.Leu54=
XM_011510794.1:c.354A>C	XP_011509096.1:p.Leu118=
XM_011510795.1:c.-80-23A>C	XP_011509097.1:n.-80-23A>C
XM_011510794.2:c.354A>C	XP_011509096.1:p.Leu118=
XM_017003583.1:c.-80-23A>C	XP_016859072.1:n.-80-23A>C
NM_000122.2:c.354A>C MANE Select	NP_000113.1:p.Leu118=
NM_001303416.2:c.162A>C	NP_001290345.1:p.Leu54=
NM_001303418.2:c.162A>C	NP_001290347.1:p.Leu54=