Canonical Allele Identifier: CA7910636

Gene: ERCC4

Linked Data

• dbSNP Id: rs201675333
• ExAC: 16:14038687 A / G
• gnomAD v2: 16-14038687-A-G
• gnomAD v3: 16-13944830-A-G
• gnomAD v4: 16-13944830-A-G
• MyVariant Identifiers: chr16:g.14038687A>G (hg19) ; chr16:g.13944830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944830A>G , CM000678.2:g.13944830A>G	GRCh38
NC_000016.9:g.14038687A>G , CM000678.1:g.14038687A>G	GRCh37
NC_000016.8:g.13946188A>G	NCBI36
NG_011442.1:g.29674A>G , LRG_463:g.29674A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2150A>G	ENSP00000507912.1:p.Lys717Arg
ENST00000683962.1:c.*1706A>G	ENSP00000506854.1:n.*1706A>G
ENST00000311895.8:c.2012A>G MANE Select	ENSP00000310520.7:p.Lys671Arg
ENST00000311895.7:c.2012A>G	ENSP00000310520.7:p.Lys671Arg
ENST00000389138.7:n.1289A>G
ENST00000462862.1:c.325A>G	ENSP00000461322.1:n.325A>G
NM_005236.2:c.2012A>G , LRG_463t1:c.2012A>G	NP_005227.1:p.Lys671Arg
XM_011522424.1:c.2150A>G	XP_011520726.1:p.Lys717Arg
XM_011522425.1:c.1469A>G	XP_011520727.1:p.Lys490Arg
XM_011522426.1:c.1223A>G	XP_011520728.1:p.Lys408Arg
XM_011522427.1:c.662A>G	XP_011520729.1:p.Lys221Arg
XR_932805.1:n.2171A>G
XM_011522424.3:c.2150A>G	XP_011520726.1:p.Lys717Arg
XM_017023043.2:c.1223A>G	XP_016878532.1:p.Lys408Arg
NM_005236.3:c.2012A>G MANE Select	NP_005227.1:p.Lys671Arg