Canonical Allele Identifier: CA143940

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 55828
• ClinVar RCV Id: RCV000049249 ; RCV001646986 ; RCV001853034
• dbSNP Id: rs397509404
• ExAC: 16:14029518 T / TA
• gnomAD v2: 16-14029518-T-TA
• gnomAD v4: 16-13935661-T-TA
• MyVariant Identifiers: chr16:g.14029519dupA (hg19) ; chr16:g.14029518_14029519insA (hg19) ; chr16:g.13935662dupA (hg38) ; chr16:g.13935661_13935662insA (hg38)
• PubMed: PMID:23623389

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935662dup , CM000678.2:g.13935662dup	GRCh38
NC_000016.9:g.14029519dup , CM000678.1:g.14029519dup	GRCh37
NC_000016.8:g.13937020dup	NCBI36
NG_011442.1:g.20506dup , LRG_463:g.20506dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1808dup
ENST00000682617.1:c.1868dup	ENSP00000507912.1:p.Tyr623Ter
ENST00000682826.1:c.*1044dup	ENSP00000507274.1:n.*1044dup
ENST00000682909.1:n.3770dup
ENST00000683277.1:n.3375dup
ENST00000683407.1:n.1738dup
ENST00000683962.1:c.*1424dup	ENSP00000506854.1:n.*1424dup
ENST00000311895.8:c.1730dup MANE Select	ENSP00000310520.7:p.Tyr577Ter
ENST00000311895.7:c.1730dup	ENSP00000310520.7:p.Tyr577Ter
ENST00000389138.7:n.1007dup
NM_005236.2:c.1730dup , LRG_463t1:c.1730dup	NP_005227.1:p.Tyr577Ter
XM_011522424.1:c.1868dup	XP_011520726.1:p.Tyr623Ter
XM_011522425.1:c.1187dup	XP_011520727.1:p.Tyr396Ter
XM_011522426.1:c.941dup	XP_011520728.1:p.Tyr314Ter
XM_011522427.1:c.380dup	XP_011520729.1:p.Tyr127Ter
XR_932805.1:n.1889dup
XM_011522424.3:c.1868dup	XP_011520726.1:p.Tyr623Ter
XM_017023043.2:c.941dup	XP_016878532.1:p.Tyr314Ter
NM_005236.3:c.1730dup MANE Select	NP_005227.1:p.Tyr577Ter