Canonical Allele Identifier: CA394824292

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2926750
• ClinVar RCV Id: RCV003788988
• gnomAD v4: 16-13948120-G-T
• MyVariant Identifiers: chr16:g.14041977G>T (hg19) ; chr16:g.13948120G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948120G>T , CM000678.2:g.13948120G>T	GRCh38
NC_000016.9:g.14041977G>T , CM000678.1:g.14041977G>T	GRCh37
NC_000016.8:g.13949478G>T	NCBI36
NG_011442.1:g.32964G>T , LRG_463:g.32964G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2662G>T	ENSP00000507912.1:p.Glu888Ter
ENST00000683962.1:c.*2218G>T	ENSP00000506854.1:n.*2218G>T
ENST00000311895.8:c.2524G>T MANE Select	ENSP00000310520.7:p.Glu842Ter
ENST00000311895.7:c.2524G>T	ENSP00000310520.7:p.Glu842Ter
ENST00000389138.7:n.1801G>T
NM_005236.2:c.2524G>T , LRG_463t1:c.2524G>T	NP_005227.1:p.Glu842Ter
XM_011522424.1:c.2662G>T	XP_011520726.1:p.Glu888Ter
XM_011522425.1:c.1981G>T	XP_011520727.1:p.Glu661Ter
XM_011522426.1:c.1735G>T	XP_011520728.1:p.Glu579Ter
XM_011522427.1:c.1174G>T	XP_011520729.1:p.Glu392Ter
XR_932805.1:n.2683G>T
XM_011522424.3:c.2662G>T	XP_011520726.1:p.Glu888Ter
XM_017023043.2:c.1735G>T	XP_016878532.1:p.Glu579Ter
NM_005236.3:c.2524G>T MANE Select	NP_005227.1:p.Glu842Ter