Canonical Allele Identifier: CA394820854

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1803967
• ClinVar RCV Id: RCV002468705
• COSMIC: COSM5575913
• MyVariant Identifiers: chr16:g.14041479G>T (hg19) ; chr16:g.13947622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947622G>T , CM000678.2:g.13947622G>T	GRCh38
NC_000016.9:g.14041479G>T , CM000678.1:g.14041479G>T	GRCh37
NC_000016.8:g.13948980G>T	NCBI36
NG_011442.1:g.32466G>T , LRG_463:g.32466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2164G>T	ENSP00000507912.1:p.Glu722Ter
ENST00000683962.1:c.*1720G>T	ENSP00000506854.1:n.*1720G>T
ENST00000311895.8:c.2026G>T MANE Select	ENSP00000310520.7:p.Glu676Ter
ENST00000311895.7:c.2026G>T	ENSP00000310520.7:p.Glu676Ter
ENST00000389138.7:n.1303G>T
ENST00000462862.1:c.339G>T	ENSP00000461322.1:n.339G>T
NM_005236.2:c.2026G>T , LRG_463t1:c.2026G>T	NP_005227.1:p.Glu676Ter
XM_011522424.1:c.2164G>T	XP_011520726.1:p.Glu722Ter
XM_011522425.1:c.1483G>T	XP_011520727.1:p.Glu495Ter
XM_011522426.1:c.1237G>T	XP_011520728.1:p.Glu413Ter
XM_011522427.1:c.676G>T	XP_011520729.1:p.Glu226Ter
XR_932805.1:n.2185G>T
XM_011522424.3:c.2164G>T	XP_011520726.1:p.Glu722Ter
XM_017023043.2:c.1237G>T	XP_016878532.1:p.Glu413Ter
NM_005236.3:c.2026G>T MANE Select	NP_005227.1:p.Glu676Ter