Canonical Allele Identifier: CA493690067

Gene: ERCC4

Linked Data

• dbSNP Id: rs1391084987
• gnomAD v2: 16-14041895-G-A
• MyVariant Identifiers: chr16:g.14041895G>A (hg19) ; chr16:g.13948038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948038G>A , CM000678.2:g.13948038G>A	GRCh38
NC_000016.9:g.14041895G>A , CM000678.1:g.14041895G>A	GRCh37
NC_000016.8:g.13949396G>A	NCBI36
NG_011442.1:g.32882G>A , LRG_463:g.32882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2580G>A	ENSP00000507912.1:p.Glu860=
ENST00000683962.1:c.*2136G>A	ENSP00000506854.1:n.*2136G>A
ENST00000311895.8:c.2442G>A MANE Select	ENSP00000310520.7:p.Glu814=
ENST00000311895.7:c.2442G>A	ENSP00000310520.7:p.Glu814=
ENST00000389138.7:n.1719G>A
NM_005236.2:c.2442G>A , LRG_463t1:c.2442G>A	NP_005227.1:p.Glu814=
XM_011522424.1:c.2580G>A	XP_011520726.1:p.Glu860=
XM_011522425.1:c.1899G>A	XP_011520727.1:p.Glu633=
XM_011522426.1:c.1653G>A	XP_011520728.1:p.Glu551=
XM_011522427.1:c.1092G>A	XP_011520729.1:p.Glu364=
XR_932805.1:n.2601G>A
XM_011522424.3:c.2580G>A	XP_011520726.1:p.Glu860=
XM_017023043.2:c.1653G>A	XP_016878532.1:p.Glu551=
NM_005236.3:c.2442G>A MANE Select	NP_005227.1:p.Glu814=