Canonical Allele Identifier: CA394821579

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947680T>G , CM000678.2:g.13947680T>G	GRCh38
NC_000016.9:g.14041537T>G , CM000678.1:g.14041537T>G	GRCh37
NC_000016.8:g.13949038T>G	NCBI36
NG_011442.1:g.32524T>G , LRG_463:g.32524T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2084T>G MANE Select	NP_005227.1:p.Leu695Arg
ENST00000311895.8:c.2084T>G MANE Select	ENSP00000310520.7:p.Leu695Arg
NM_005236.2:c.2084T>G , LRG_463t1:c.2084T>G	NP_005227.1:p.Leu695Arg
ENST00000311895.7:c.2084T>G	ENSP00000310520.7:p.Leu695Arg
ENST00000389138.7:n.1361T>G
ENST00000462862.1:c.397T>G	ENSP00000461322.1:n.397T>G
ENST00000682617.1:c.2222T>G	ENSP00000507912.1:p.Leu741Arg
ENST00000683962.1:c.*1778T>G	ENSP00000506854.1:n.*1778T>G
XM_011522424.1:c.2222T>G	XP_011520726.1:p.Leu741Arg
XM_011522424.3:c.2222T>G	XP_011520726.1:p.Leu741Arg
XM_011522425.1:c.1541T>G	XP_011520727.1:p.Leu514Arg
XM_011522426.1:c.1295T>G	XP_011520728.1:p.Leu432Arg
XM_011522427.1:c.734T>G	XP_011520729.1:p.Leu245Arg
XM_017023043.2:c.1295T>G	XP_016878532.1:p.Leu432Arg
XR_932805.1:n.2243T>G