Canonical Allele Identifier: CA278482804

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1294062
• ClinVar RCV Id: RCV001715982
• dbSNP Id: rs3136207
• gnomAD v2: 16-14038915-G-A
• gnomAD v3: 16-13945058-G-A
• gnomAD v4: 16-13945058-G-A
• MyVariant Identifiers: chr16:g.14038915G>A (hg19) ; chr16:g.13945058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13945058G>A , CM000678.2:g.13945058G>A	GRCh38
NC_000016.9:g.14038915G>A , CM000678.1:g.14038915G>A	GRCh37
NC_000016.8:g.13946416G>A	NCBI36
NG_011442.1:g.29902G>A , LRG_463:g.29902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2155+223G>A	ENSP00000507912.1:n.2155+223G>A
ENST00000683962.1:c.*1711+223G>A	ENSP00000506854.1:n.*1711+223G>A
ENST00000311895.8:c.2017+223G>A MANE Select	ENSP00000310520.7:n.2017+223G>A
ENST00000311895.7:c.2017+223G>A	ENSP00000310520.7:n.2017+223G>A
ENST00000389138.7:n.1294+223G>A
ENST00000462862.1:c.330+223G>A	ENSP00000461322.1:n.330+223G>A
NM_005236.2:c.2017+223G>A , LRG_463t1:c.2017+223G>A	NP_005227.1:n.2017+223G>A
XM_011522424.1:c.2155+223G>A	XP_011520726.1:n.2155+223G>A
XM_011522425.1:c.1474+223G>A	XP_011520727.1:n.1474+223G>A
XM_011522426.1:c.1228+223G>A	XP_011520728.1:n.1228+223G>A
XM_011522427.1:c.667+223G>A	XP_011520729.1:n.667+223G>A
XR_932805.1:n.2176+223G>A
XM_011522424.3:c.2155+223G>A	XP_011520726.1:n.2155+223G>A
XM_017023043.2:c.1228+223G>A	XP_016878532.1:n.1228+223G>A
NM_005236.3:c.2017+223G>A MANE Select	NP_005227.1:n.2017+223G>A