Canonical Allele Identifier: CA394824447

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042010T>G (hg19) ; chr16:g.13948153T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948153T>G , CM000678.2:g.13948153T>G	GRCh38
NC_000016.9:g.14042010T>G , CM000678.1:g.14042010T>G	GRCh37
NC_000016.8:g.13949511T>G	NCBI36
NG_011442.1:g.32997T>G , LRG_463:g.32997T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2695T>G	ENSP00000507912.1:p.Leu899Val
ENST00000683962.1:c.*2251T>G	ENSP00000506854.1:n.*2251T>G
ENST00000311895.8:c.2557T>G MANE Select	ENSP00000310520.7:p.Leu853Val
ENST00000311895.7:c.2557T>G	ENSP00000310520.7:p.Leu853Val
ENST00000389138.7:n.1834T>G
NM_005236.2:c.2557T>G , LRG_463t1:c.2557T>G	NP_005227.1:p.Leu853Val
XM_011522424.1:c.2695T>G	XP_011520726.1:p.Leu899Val
XM_011522425.1:c.2014T>G	XP_011520727.1:p.Leu672Val
XM_011522426.1:c.1768T>G	XP_011520728.1:p.Leu590Val
XM_011522427.1:c.1207T>G	XP_011520729.1:p.Leu403Val
XR_932805.1:n.2716T>G
XM_011522424.3:c.2695T>G	XP_011520726.1:p.Leu899Val
XM_017023043.2:c.1768T>G	XP_016878532.1:p.Leu590Val
NM_005236.3:c.2557T>G MANE Select	NP_005227.1:p.Leu853Val