Canonical Allele Identifier: CA536067622

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 1712482
• ClinVar RCV Id: RCV002294737
• dbSNP Id: rs1341969763
• gnomAD v2: 2-128047259-A-G
• gnomAD v3: 2-127289683-A-G
• gnomAD v4: 2-127289683-A-G
• MyVariant Identifiers: chr2:g.128047259A>G (hg19) ; chr2:g.127289683A>G (hg38)
• MutSpliceDB: CA536067622

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127289683A>G , CM000664.2:g.127289683A>G	GRCh38
NC_000002.11:g.128047259A>G , CM000664.1:g.128047259A>G	GRCh37
NC_000002.10:g.127763729A>G	NCBI36
NG_007454.1:g.9494T>C , LRG_462:g.9494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.657+6T>C MANE Select	ENSP00000285398.2:n.657+6T>C
ENST00000642308.1:c.*697+6T>C	ENSP00000496684.1:n.*697+6T>C
ENST00000643982.1:n.254+6T>C
ENST00000644317.1:c.*146+6T>C	ENSP00000494012.1:n.*146+6T>C
ENST00000645233.1:c.*869+6T>C	ENSP00000494116.1:n.*869+6T>C
ENST00000645467.1:c.657+6T>C	ENSP00000494889.1:n.657+6T>C
ENST00000645736.1:c.513+6T>C	ENSP00000494545.1:n.513+6T>C
ENST00000646042.1:n.1211T>C
ENST00000646654.1:c.*124+6T>C	ENSP00000494526.1:n.*124+6T>C
ENST00000647169.1:c.657+6T>C	ENSP00000495619.1:n.657+6T>C
ENST00000647496.1:c.230+6T>C
ENST00000285398.6:c.657+6T>C	ENSP00000285398.2:n.657+6T>C
ENST00000426778.5:c.*638+6T>C	ENSP00000415335.1:n.*638+6T>C
ENST00000445889.5:c.*700+6T>C	ENSP00000390888.1:n.*700+6T>C
ENST00000456257.1:c.188+6T>C
ENST00000460485.1:n.508T>C
ENST00000494464.5:n.547T>C
NM_000122.1:c.657+6T>C , LRG_462t1:c.657+6T>C	NP_000113.1:n.657+6T>C
NM_001303416.1:c.465+6T>C	NP_001290345.1:n.465+6T>C
NM_001303418.1:c.465+6T>C	NP_001290347.1:n.465+6T>C
XM_011510794.1:c.657+6T>C	XP_011509096.1:n.657+6T>C
XM_011510795.1:c.201+6T>C	XP_011509097.1:n.201+6T>C
XM_011510794.2:c.657+6T>C	XP_011509096.1:n.657+6T>C
XM_017003583.1:c.201+6T>C	XP_016859072.1:n.201+6T>C
NM_000122.2:c.657+6T>C MANE Select	NP_000113.1:n.657+6T>C
NM_001303416.2:c.465+6T>C	NP_001290345.1:n.465+6T>C
NM_001303418.2:c.465+6T>C	NP_001290347.1:n.465+6T>C