Canonical Allele Identifier: CA7910461

Gene: ERCC4

Linked Data

• dbSNP Id: rs748292174
• ExAC: 16:14029191 A / G
• gnomAD v2: 16-14029191-A-G
• gnomAD v4: 16-13935334-A-G
• MyVariant Identifiers: chr16:g.14029191A>G (hg19) ; chr16:g.13935334A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935334A>G , CM000678.2:g.13935334A>G	GRCh38
NC_000016.9:g.14029191A>G , CM000678.1:g.14029191A>G	GRCh37
NC_000016.8:g.13936692A>G	NCBI36
NG_011442.1:g.20178A>G , LRG_463:g.20178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1480A>G
ENST00000682617.1:c.1540A>G	ENSP00000507912.1:p.Arg514Gly
ENST00000682826.1:c.*716A>G	ENSP00000507274.1:n.*716A>G
ENST00000682909.1:n.3442A>G
ENST00000683277.1:n.3047A>G
ENST00000683407.1:n.1410A>G
ENST00000683962.1:c.*1096A>G	ENSP00000506854.1:n.*1096A>G
ENST00000311895.8:c.1402A>G MANE Select	ENSP00000310520.7:p.Arg468Gly
ENST00000311895.7:c.1402A>G	ENSP00000310520.7:p.Arg468Gly
ENST00000389138.7:n.679A>G
ENST00000573018.1:n.470A>G
NM_005236.2:c.1402A>G , LRG_463t1:c.1402A>G	NP_005227.1:p.Arg468Gly
XM_011522424.1:c.1540A>G	XP_011520726.1:p.Arg514Gly
XM_011522425.1:c.859A>G	XP_011520727.1:p.Arg287Gly
XM_011522426.1:c.613A>G	XP_011520728.1:p.Arg205Gly
XM_011522427.1:c.52A>G	XP_011520729.1:p.Arg18Gly
XR_932805.1:n.1561A>G
XM_011522424.3:c.1540A>G	XP_011520726.1:p.Arg514Gly
XM_017023043.2:c.613A>G	XP_016878532.1:p.Arg205Gly
NM_005236.3:c.1402A>G MANE Select	NP_005227.1:p.Arg468Gly