Canonical Allele Identifier: CA7910779

Gene: ERCC4

Linked Data

• dbSNP Id: rs762984557
• ExAC: 16:14042063 T / A
• MyVariant Identifiers: chr16:g.14042063T>A (hg19) ; chr16:g.13948206T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948206T>A , CM000678.2:g.13948206T>A	GRCh38
NC_000016.9:g.14042063T>A , CM000678.1:g.14042063T>A	GRCh37
NC_000016.8:g.13949564T>A	NCBI36
NG_011442.1:g.33050T>A , LRG_463:g.33050T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2748T>A	ENSP00000507912.1:p.Val916=
ENST00000683962.1:c.*2304T>A	ENSP00000506854.1:n.*2304T>A
ENST00000311895.8:c.2610T>A MANE Select	ENSP00000310520.7:p.Val870=
ENST00000311895.7:c.2610T>A	ENSP00000310520.7:p.Val870=
ENST00000389138.7:n.1887T>A
NM_005236.2:c.2610T>A , LRG_463t1:c.2610T>A	NP_005227.1:p.Val870=
XM_011522424.1:c.2748T>A	XP_011520726.1:p.Val916=
XM_011522425.1:c.2067T>A	XP_011520727.1:p.Val689=
XM_011522426.1:c.1821T>A	XP_011520728.1:p.Val607=
XM_011522427.1:c.1260T>A	XP_011520729.1:p.Val420=
XR_932805.1:n.2769T>A
XM_011522424.3:c.2748T>A	XP_011520726.1:p.Val916=
XM_017023043.2:c.1821T>A	XP_016878532.1:p.Val607=
NM_005236.3:c.2610T>A MANE Select	NP_005227.1:p.Val870=