Canonical Allele Identifier: CA394817422

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038597T>G (hg19) ; chr16:g.13944740T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944740T>G , CM000678.2:g.13944740T>G	GRCh38
NC_000016.9:g.14038597T>G , CM000678.1:g.14038597T>G	GRCh37
NC_000016.8:g.13946098T>G	NCBI36
NG_011442.1:g.29584T>G , LRG_463:g.29584T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2060T>G	ENSP00000507912.1:p.Val687Gly
ENST00000683962.1:c.*1616T>G	ENSP00000506854.1:n.*1616T>G
ENST00000311895.8:c.1922T>G MANE Select	ENSP00000310520.7:p.Val641Gly
ENST00000311895.7:c.1922T>G	ENSP00000310520.7:p.Val641Gly
ENST00000389138.7:n.1199T>G
ENST00000462862.1:c.235T>G	ENSP00000461322.1:n.235T>G
NM_005236.2:c.1922T>G , LRG_463t1:c.1922T>G	NP_005227.1:p.Val641Gly
XM_011522424.1:c.2060T>G	XP_011520726.1:p.Val687Gly
XM_011522425.1:c.1379T>G	XP_011520727.1:p.Val460Gly
XM_011522426.1:c.1133T>G	XP_011520728.1:p.Val378Gly
XM_011522427.1:c.572T>G	XP_011520729.1:p.Val191Gly
XR_932805.1:n.2081T>G
XM_011522424.3:c.2060T>G	XP_011520726.1:p.Val687Gly
XM_017023043.2:c.1133T>G	XP_016878532.1:p.Val378Gly
NM_005236.3:c.1922T>G MANE Select	NP_005227.1:p.Val641Gly