Canonical Allele Identifier: CA493689755

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947798-C-G
• MyVariant Identifiers: chr16:g.14041655C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947798C>G , CM000678.2:g.13947798C>G	GRCh38
NC_000016.9:g.14041655C>G , CM000678.1:g.14041655C>G	GRCh37
NC_000016.8:g.13949156C>G	NCBI36
NG_011442.1:g.32642C>G , LRG_463:g.32642C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2340C>G	ENSP00000507912.1:p.Gly780=
ENST00000683962.1:c.*1896C>G	ENSP00000506854.1:n.*1896C>G
ENST00000311895.8:c.2202C>G MANE Select	ENSP00000310520.7:p.Gly734=
ENST00000311895.7:c.2202C>G	ENSP00000310520.7:p.Gly734=
ENST00000389138.7:n.1479C>G
ENST00000462862.1:c.515C>G	ENSP00000461322.1:n.515C>G
NM_005236.2:c.2202C>G , LRG_463t1:c.2202C>G	NP_005227.1:p.Gly734=
XM_011522424.1:c.2340C>G	XP_011520726.1:p.Gly780=
XM_011522425.1:c.1659C>G	XP_011520727.1:p.Gly553=
XM_011522426.1:c.1413C>G	XP_011520728.1:p.Gly471=
XM_011522427.1:c.852C>G	XP_011520729.1:p.Gly284=
XR_932805.1:n.2361C>G
XM_011522424.3:c.2340C>G	XP_011520726.1:p.Gly780=
XM_017023043.2:c.1413C>G	XP_016878532.1:p.Gly471=
NM_005236.3:c.2202C>G MANE Select	NP_005227.1:p.Gly734=