Canonical Allele Identifier: CA493444480

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042090G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948233G>A , CM000678.2:g.13948233G>A	GRCh38
NC_000016.9:g.14042090G>A , CM000678.1:g.14042090G>A	GRCh37
NC_000016.8:g.13949591G>A	NCBI36
NG_011442.1:g.33077G>A , LRG_463:g.33077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2775G>A	ENSP00000507912.1:p.Leu925=
ENST00000683962.1:c.*2331G>A	ENSP00000506854.1:n.*2331G>A
ENST00000311895.8:c.2637G>A MANE Select	ENSP00000310520.7:p.Leu879=
ENST00000311895.7:c.2637G>A	ENSP00000310520.7:p.Leu879=
ENST00000389138.7:n.1914G>A
NM_005236.2:c.2637G>A , LRG_463t1:c.2637G>A	NP_005227.1:p.Leu879=
XM_011522424.1:c.2775G>A	XP_011520726.1:p.Leu925=
XM_011522425.1:c.2094G>A	XP_011520727.1:p.Leu698=
XM_011522426.1:c.1848G>A	XP_011520728.1:p.Leu616=
XM_011522427.1:c.1287G>A	XP_011520729.1:p.Leu429=
XR_932805.1:n.2796G>A
XM_011522424.3:c.2775G>A	XP_011520726.1:p.Leu925=
XM_017023043.2:c.1848G>A	XP_016878532.1:p.Leu616=
NM_005236.3:c.2637G>A MANE Select	NP_005227.1:p.Leu879=