Canonical Allele Identifier: CA7910508

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1448770
• ClinVar RCV Id: RCV001997218
• dbSNP Id: rs773850619
• ExAC: 16:14029443 A / G
• gnomAD v2: 16-14029443-A-G
• gnomAD v4: 16-13935586-A-G
• MyVariant Identifiers: chr16:g.14029443A>G (hg19) ; chr16:g.13935586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935586A>G , CM000678.2:g.13935586A>G	GRCh38
NC_000016.9:g.14029443A>G , CM000678.1:g.14029443A>G	GRCh37
NC_000016.8:g.13936944A>G	NCBI36
NG_011442.1:g.20430A>G , LRG_463:g.20430A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1732A>G
ENST00000682617.1:c.1792A>G	ENSP00000507912.1:p.Thr598Ala
ENST00000682826.1:c.*968A>G	ENSP00000507274.1:n.*968A>G
ENST00000682909.1:n.3694A>G
ENST00000683277.1:n.3299A>G
ENST00000683407.1:n.1662A>G
ENST00000683962.1:c.*1348A>G	ENSP00000506854.1:n.*1348A>G
ENST00000311895.8:c.1654A>G MANE Select	ENSP00000310520.7:p.Thr552Ala
ENST00000311895.7:c.1654A>G	ENSP00000310520.7:p.Thr552Ala
ENST00000389138.7:n.931A>G
NM_005236.2:c.1654A>G , LRG_463t1:c.1654A>G	NP_005227.1:p.Thr552Ala
XM_011522424.1:c.1792A>G	XP_011520726.1:p.Thr598Ala
XM_011522425.1:c.1111A>G	XP_011520727.1:p.Thr371Ala
XM_011522426.1:c.865A>G	XP_011520728.1:p.Thr289Ala
XM_011522427.1:c.304A>G	XP_011520729.1:p.Thr102Ala
XR_932805.1:n.1813A>G
XM_011522424.3:c.1792A>G	XP_011520726.1:p.Thr598Ala
XM_017023043.2:c.865A>G	XP_016878532.1:p.Thr289Ala
NM_005236.3:c.1654A>G MANE Select	NP_005227.1:p.Thr552Ala