Canonical Allele Identifier: CA394812458

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1970152
• ClinVar RCV Id: RCV002730395
• dbSNP Id: rs1455880995
• gnomAD v2: 16-14029483-C-T
• gnomAD v4: 16-13935626-C-T
• COSMIC: COSM5893873
• MyVariant Identifiers: chr16:g.14029483C>T (hg19) ; chr16:g.13935626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935626C>T , CM000678.2:g.13935626C>T	GRCh38
NC_000016.9:g.14029483C>T , CM000678.1:g.14029483C>T	GRCh37
NC_000016.8:g.13936984C>T	NCBI36
NG_011442.1:g.20470C>T , LRG_463:g.20470C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1772C>T
ENST00000682617.1:c.1832C>T	ENSP00000507912.1:p.Ala611Val
ENST00000682826.1:c.*1008C>T	ENSP00000507274.1:n.*1008C>T
ENST00000682909.1:n.3734C>T
ENST00000683277.1:n.3339C>T
ENST00000683407.1:n.1702C>T
ENST00000683962.1:c.*1388C>T	ENSP00000506854.1:n.*1388C>T
ENST00000311895.8:c.1694C>T MANE Select	ENSP00000310520.7:p.Ala565Val
ENST00000311895.7:c.1694C>T	ENSP00000310520.7:p.Ala565Val
ENST00000389138.7:n.971C>T
NM_005236.2:c.1694C>T , LRG_463t1:c.1694C>T	NP_005227.1:p.Ala565Val
XM_011522424.1:c.1832C>T	XP_011520726.1:p.Ala611Val
XM_011522425.1:c.1151C>T	XP_011520727.1:p.Ala384Val
XM_011522426.1:c.905C>T	XP_011520728.1:p.Ala302Val
XM_011522427.1:c.344C>T	XP_011520729.1:p.Ala115Val
XR_932805.1:n.1853C>T
XM_011522424.3:c.1832C>T	XP_011520726.1:p.Ala611Val
XM_017023043.2:c.905C>T	XP_016878532.1:p.Ala302Val
NM_005236.3:c.1694C>T MANE Select	NP_005227.1:p.Ala565Val