Canonical Allele Identifier: CA394822996

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041771G>A (hg19) ; chr16:g.13947914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947914G>A , CM000678.2:g.13947914G>A	GRCh38
NC_000016.9:g.14041771G>A , CM000678.1:g.14041771G>A	GRCh37
NC_000016.8:g.13949272G>A	NCBI36
NG_011442.1:g.32758G>A , LRG_463:g.32758G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2456G>A	ENSP00000507912.1:p.Gly819Asp
ENST00000683962.1:c.*2012G>A	ENSP00000506854.1:n.*2012G>A
ENST00000311895.8:c.2318G>A MANE Select	ENSP00000310520.7:p.Gly773Asp
ENST00000311895.7:c.2318G>A	ENSP00000310520.7:p.Gly773Asp
ENST00000389138.7:n.1595G>A
ENST00000462862.1:c.631G>A	ENSP00000461322.1:n.631G>A
NM_005236.2:c.2318G>A , LRG_463t1:c.2318G>A	NP_005227.1:p.Gly773Asp
XM_011522424.1:c.2456G>A	XP_011520726.1:p.Gly819Asp
XM_011522425.1:c.1775G>A	XP_011520727.1:p.Gly592Asp
XM_011522426.1:c.1529G>A	XP_011520728.1:p.Gly510Asp
XM_011522427.1:c.968G>A	XP_011520729.1:p.Gly323Asp
XR_932805.1:n.2477G>A
XM_011522424.3:c.2456G>A	XP_011520726.1:p.Gly819Asp
XM_017023043.2:c.1529G>A	XP_016878532.1:p.Gly510Asp
NM_005236.3:c.2318G>A MANE Select	NP_005227.1:p.Gly773Asp