Canonical Allele Identifier: CA394824551

Gene: ERCC4

Linked Data

• dbSNP Id: rs370809250
• MyVariant Identifiers: chr16:g.14042057C>A (hg19) ; chr16:g.13948200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948200C>A , CM000678.2:g.13948200C>A	GRCh38
NC_000016.9:g.14042057C>A , CM000678.1:g.14042057C>A	GRCh37
NC_000016.8:g.13949558C>A	NCBI36
NG_011442.1:g.33044C>A , LRG_463:g.33044C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2742C>A	ENSP00000507912.1:p.His914Gln
ENST00000683962.1:c.*2298C>A	ENSP00000506854.1:n.*2298C>A
ENST00000311895.8:c.2604C>A MANE Select	ENSP00000310520.7:p.His868Gln
ENST00000311895.7:c.2604C>A	ENSP00000310520.7:p.His868Gln
ENST00000389138.7:n.1881C>A
NM_005236.2:c.2604C>A , LRG_463t1:c.2604C>A	NP_005227.1:p.His868Gln
XM_011522424.1:c.2742C>A	XP_011520726.1:p.His914Gln
XM_011522425.1:c.2061C>A	XP_011520727.1:p.His687Gln
XM_011522426.1:c.1815C>A	XP_011520728.1:p.His605Gln
XM_011522427.1:c.1254C>A	XP_011520729.1:p.His418Gln
XR_932805.1:n.2763C>A
XM_011522424.3:c.2742C>A	XP_011520726.1:p.His914Gln
XM_017023043.2:c.1815C>A	XP_016878532.1:p.His605Gln
NM_005236.3:c.2604C>A MANE Select	NP_005227.1:p.His868Gln