Canonical Allele Identifier: CA394822699

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041701C>G (hg19) ; chr16:g.13947844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947844C>G , CM000678.2:g.13947844C>G	GRCh38
NC_000016.9:g.14041701C>G , CM000678.1:g.14041701C>G	GRCh37
NC_000016.8:g.13949202C>G	NCBI36
NG_011442.1:g.32688C>G , LRG_463:g.32688C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2386C>G	ENSP00000507912.1:p.Arg796Gly
ENST00000683962.1:c.*1942C>G	ENSP00000506854.1:n.*1942C>G
ENST00000311895.8:c.2248C>G MANE Select	ENSP00000310520.7:p.Arg750Gly
ENST00000311895.7:c.2248C>G	ENSP00000310520.7:p.Arg750Gly
ENST00000389138.7:n.1525C>G
ENST00000462862.1:c.561C>G	ENSP00000461322.1:n.561C>G
NM_005236.2:c.2248C>G , LRG_463t1:c.2248C>G	NP_005227.1:p.Arg750Gly
XM_011522424.1:c.2386C>G	XP_011520726.1:p.Arg796Gly
XM_011522425.1:c.1705C>G	XP_011520727.1:p.Arg569Gly
XM_011522426.1:c.1459C>G	XP_011520728.1:p.Arg487Gly
XM_011522427.1:c.898C>G	XP_011520729.1:p.Arg300Gly
XR_932805.1:n.2407C>G
XM_011522424.3:c.2386C>G	XP_011520726.1:p.Arg796Gly
XM_017023043.2:c.1459C>G	XP_016878532.1:p.Arg487Gly
NM_005236.3:c.2248C>G MANE Select	NP_005227.1:p.Arg750Gly