Canonical Allele Identifier: CA394824549

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 646565
• ClinVar RCV Id: RCV000800877
• dbSNP Id: rs368064765
• gnomAD v4: 16-13948199-A-G
• MyVariant Identifiers: chr16:g.14042056A>G (hg19) ; chr16:g.13948199A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948199A>G , CM000678.2:g.13948199A>G	GRCh38
NC_000016.9:g.14042056A>G , CM000678.1:g.14042056A>G	GRCh37
NC_000016.8:g.13949557A>G	NCBI36
NG_011442.1:g.33043A>G , LRG_463:g.33043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2741A>G	ENSP00000507912.1:p.His914Arg
ENST00000683962.1:c.*2297A>G	ENSP00000506854.1:n.*2297A>G
ENST00000311895.8:c.2603A>G MANE Select	ENSP00000310520.7:p.His868Arg
ENST00000311895.7:c.2603A>G	ENSP00000310520.7:p.His868Arg
ENST00000389138.7:n.1880A>G
NM_005236.2:c.2603A>G , LRG_463t1:c.2603A>G	NP_005227.1:p.His868Arg
XM_011522424.1:c.2741A>G	XP_011520726.1:p.His914Arg
XM_011522425.1:c.2060A>G	XP_011520727.1:p.His687Arg
XM_011522426.1:c.1814A>G	XP_011520728.1:p.His605Arg
XM_011522427.1:c.1253A>G	XP_011520729.1:p.His418Arg
XR_932805.1:n.2762A>G
XM_011522424.3:c.2741A>G	XP_011520726.1:p.His914Arg
XM_017023043.2:c.1814A>G	XP_016878532.1:p.His605Arg
NM_005236.3:c.2603A>G MANE Select	NP_005227.1:p.His868Arg