Canonical Allele Identifier: CA1858082

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 331075
• ClinVar RCV Id: RCV000339981 ; RCV001338905
• dbSNP Id: rs563550613
• ExAC: 2:128016984 G / A
• gnomAD v2: 2-128016984-G-A
• gnomAD v3: 2-127259408-G-A
• gnomAD v4: 2-127259408-G-A
• COSMIC: COSM4761175
• MyVariant Identifiers: chr2:g.128016984G>A (hg19) ; chr2:g.127259408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127259408G>A , CM000664.2:g.127259408G>A	GRCh38
NC_000002.11:g.128016984G>A , CM000664.1:g.128016984G>A	GRCh37
NC_000002.10:g.127733454G>A	NCBI36
NG_007454.1:g.39769C>T , LRG_462:g.39769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.2105C>T MANE Select	ENSP00000285398.2:p.Ala702Val
ENST00000644317.1:c.*1594C>T	ENSP00000494012.1:n.*1594C>T
ENST00000645233.1:c.*2317C>T	ENSP00000494116.1:n.*2317C>T
ENST00000645467.1:c.*877C>T	ENSP00000494889.1:n.*877C>T
ENST00000645736.1:c.1776C>T	ENSP00000494545.1:n.1776C>T
ENST00000646042.1:n.2840C>T
ENST00000646654.1:c.*1572C>T	ENSP00000494526.1:n.*1572C>T
ENST00000647169.1:c.2180C>T	ENSP00000495619.1:p.Ala727Val
ENST00000647496.1:c.396-1806C>T
ENST00000285398.6:c.2105C>T	ENSP00000285398.2:p.Ala702Val
ENST00000426778.5:c.*2086C>T	ENSP00000415335.1:n.*2086C>T
ENST00000445889.5:c.*2148C>T	ENSP00000390888.1:n.*2148C>T
ENST00000491292.5:n.3475C>T
NM_000122.1:c.2105C>T , LRG_462t1:c.2105C>T	NP_000113.1:p.Ala702Val
NM_001303416.1:c.1913C>T	NP_001290345.1:p.Ala638Val
NM_001303418.1:c.1913C>T	NP_001290347.1:p.Ala638Val
XM_011510794.1:c.2123C>T	XP_011509096.1:p.Ala708Val
XM_011510795.1:c.1667C>T	XP_011509097.1:p.Ala556Val
XM_011510794.2:c.2123C>T	XP_011509096.1:p.Ala708Val
XM_017003583.1:c.1649C>T	XP_016859072.1:p.Ala550Val
NM_000122.2:c.2105C>T MANE Select	NP_000113.1:p.Ala702Val
NM_001303416.2:c.1913C>T	NP_001290345.1:p.Ala638Val
NM_001303418.2:c.1913C>T	NP_001290347.1:p.Ala638Val