Canonical Allele Identifier: CA394812110

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935574-A-G
• MyVariant Identifiers: chr16:g.14029431A>G (hg19) ; chr16:g.13935574A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935574A>G , CM000678.2:g.13935574A>G	GRCh38
NC_000016.9:g.14029431A>G , CM000678.1:g.14029431A>G	GRCh37
NC_000016.8:g.13936932A>G	NCBI36
NG_011442.1:g.20418A>G , LRG_463:g.20418A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1720A>G
ENST00000682617.1:c.1780A>G	ENSP00000507912.1:p.Lys594Glu
ENST00000682826.1:c.*956A>G	ENSP00000507274.1:n.*956A>G
ENST00000682909.1:n.3682A>G
ENST00000683277.1:n.3287A>G
ENST00000683407.1:n.1650A>G
ENST00000683962.1:c.*1336A>G	ENSP00000506854.1:n.*1336A>G
ENST00000311895.8:c.1642A>G MANE Select	ENSP00000310520.7:p.Lys548Glu
ENST00000311895.7:c.1642A>G	ENSP00000310520.7:p.Lys548Glu
ENST00000389138.7:n.919A>G
NM_005236.2:c.1642A>G , LRG_463t1:c.1642A>G	NP_005227.1:p.Lys548Glu
XM_011522424.1:c.1780A>G	XP_011520726.1:p.Lys594Glu
XM_011522425.1:c.1099A>G	XP_011520727.1:p.Lys367Glu
XM_011522426.1:c.853A>G	XP_011520728.1:p.Lys285Glu
XM_011522427.1:c.292A>G	XP_011520729.1:p.Lys98Glu
XR_932805.1:n.1801A>G
XM_011522424.3:c.1780A>G	XP_011520726.1:p.Lys594Glu
XM_017023043.2:c.853A>G	XP_016878532.1:p.Lys285Glu
NM_005236.3:c.1642A>G MANE Select	NP_005227.1:p.Lys548Glu