Canonical Allele Identifier: CA394821211

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041510T>G (hg19) ; chr16:g.13947653T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947653T>G , CM000678.2:g.13947653T>G	GRCh38
NC_000016.9:g.14041510T>G , CM000678.1:g.14041510T>G	GRCh37
NC_000016.8:g.13949011T>G	NCBI36
NG_011442.1:g.32497T>G , LRG_463:g.32497T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2195T>G	ENSP00000507912.1:p.Val732Gly
ENST00000683962.1:c.*1751T>G	ENSP00000506854.1:n.*1751T>G
ENST00000311895.8:c.2057T>G MANE Select	ENSP00000310520.7:p.Val686Gly
ENST00000311895.7:c.2057T>G	ENSP00000310520.7:p.Val686Gly
ENST00000389138.7:n.1334T>G
ENST00000462862.1:c.370T>G	ENSP00000461322.1:n.370T>G
NM_005236.2:c.2057T>G , LRG_463t1:c.2057T>G	NP_005227.1:p.Val686Gly
XM_011522424.1:c.2195T>G	XP_011520726.1:p.Val732Gly
XM_011522425.1:c.1514T>G	XP_011520727.1:p.Val505Gly
XM_011522426.1:c.1268T>G	XP_011520728.1:p.Val423Gly
XM_011522427.1:c.707T>G	XP_011520729.1:p.Val236Gly
XR_932805.1:n.2216T>G
XM_011522424.3:c.2195T>G	XP_011520726.1:p.Val732Gly
XM_017023043.2:c.1268T>G	XP_016878532.1:p.Val423Gly
NM_005236.3:c.2057T>G MANE Select	NP_005227.1:p.Val686Gly