Canonical Allele Identifier: CA394817617

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038620A>G (hg19) ; chr16:g.13944763A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944763A>G , CM000678.2:g.13944763A>G	GRCh38
NC_000016.9:g.14038620A>G , CM000678.1:g.14038620A>G	GRCh37
NC_000016.8:g.13946121A>G	NCBI36
NG_011442.1:g.29607A>G , LRG_463:g.29607A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2083A>G	ENSP00000507912.1:p.Arg695Gly
ENST00000683962.1:c.*1639A>G	ENSP00000506854.1:n.*1639A>G
ENST00000311895.8:c.1945A>G MANE Select	ENSP00000310520.7:p.Arg649Gly
ENST00000311895.7:c.1945A>G	ENSP00000310520.7:p.Arg649Gly
ENST00000389138.7:n.1222A>G
ENST00000462862.1:c.258A>G	ENSP00000461322.1:n.258A>G
NM_005236.2:c.1945A>G , LRG_463t1:c.1945A>G	NP_005227.1:p.Arg649Gly
XM_011522424.1:c.2083A>G	XP_011520726.1:p.Arg695Gly
XM_011522425.1:c.1402A>G	XP_011520727.1:p.Arg468Gly
XM_011522426.1:c.1156A>G	XP_011520728.1:p.Arg386Gly
XM_011522427.1:c.595A>G	XP_011520729.1:p.Arg199Gly
XR_932805.1:n.2104A>G
XM_011522424.3:c.2083A>G	XP_011520726.1:p.Arg695Gly
XM_017023043.2:c.1156A>G	XP_016878532.1:p.Arg386Gly
NM_005236.3:c.1945A>G MANE Select	NP_005227.1:p.Arg649Gly