Canonical Allele Identifier: CA394812571

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935674-A-G
• MyVariant Identifiers: chr16:g.14029531A>G (hg19) ; chr16:g.13935674A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935674A>G , CM000678.2:g.13935674A>G	GRCh38
NC_000016.9:g.14029531A>G , CM000678.1:g.14029531A>G	GRCh37
NC_000016.8:g.13937032A>G	NCBI36
NG_011442.1:g.20518A>G , LRG_463:g.20518A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1820A>G
ENST00000682617.1:c.1880A>G	ENSP00000507912.1:p.Tyr627Cys
ENST00000682826.1:c.*1056A>G	ENSP00000507274.1:n.*1056A>G
ENST00000682909.1:n.3782A>G
ENST00000683277.1:n.3387A>G
ENST00000683407.1:n.1750A>G
ENST00000683962.1:c.*1436A>G	ENSP00000506854.1:n.*1436A>G
ENST00000311895.8:c.1742A>G MANE Select	ENSP00000310520.7:p.Tyr581Cys
ENST00000311895.7:c.1742A>G	ENSP00000310520.7:p.Tyr581Cys
ENST00000389138.7:n.1019A>G
NM_005236.2:c.1742A>G , LRG_463t1:c.1742A>G	NP_005227.1:p.Tyr581Cys
XM_011522424.1:c.1880A>G	XP_011520726.1:p.Tyr627Cys
XM_011522425.1:c.1199A>G	XP_011520727.1:p.Tyr400Cys
XM_011522426.1:c.953A>G	XP_011520728.1:p.Tyr318Cys
XM_011522427.1:c.392A>G	XP_011520729.1:p.Tyr131Cys
XR_932805.1:n.1901A>G
XM_011522424.3:c.1880A>G	XP_011520726.1:p.Tyr627Cys
XM_017023043.2:c.953A>G	XP_016878532.1:p.Tyr318Cys
NM_005236.3:c.1742A>G MANE Select	NP_005227.1:p.Tyr581Cys