Canonical Allele Identifier: CA7910587

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13937856A>G , CM000678.2:g.13937856A>G	GRCh38
NC_000016.9:g.14031713A>G , CM000678.1:g.14031713A>G	GRCh37
NC_000016.8:g.13939214A>G	NCBI36
NG_011442.1:g.22700A>G , LRG_463:g.22700A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.1902A>G MANE Select	NP_005227.1:p.Ile634Met
ENST00000311895.8:c.1902A>G MANE Select	ENSP00000310520.7:p.Ile634Met
NM_005236.2:c.1902A>G , LRG_463t1:c.1902A>G	NP_005227.1:p.Ile634Met
ENST00000311895.7:c.1902A>G	ENSP00000310520.7:p.Ile634Met
ENST00000389138.7:n.1179A>G
ENST00000462862.1:c.93A>G	ENSP00000461322.1:p.Ile31Met
ENST00000682617.1:c.2040A>G	ENSP00000507912.1:p.Ile680Met
ENST00000682826.1:c.*1216A>G	ENSP00000507274.1:n.*1216A>G
ENST00000682909.1:n.3942A>G
ENST00000683277.1:n.3547A>G
ENST00000683962.1:c.*1596A>G	ENSP00000506854.1:n.*1596A>G
XM_011522424.1:c.2040A>G	XP_011520726.1:p.Ile680Met
XM_011522424.3:c.2040A>G	XP_011520726.1:p.Ile680Met
XM_011522425.1:c.1359A>G	XP_011520727.1:p.Ile453Met
XM_011522426.1:c.1113A>G	XP_011520728.1:p.Ile371Met
XM_011522427.1:c.552A>G	XP_011520729.1:p.Ile184Met
XM_017023043.2:c.1113A>G	XP_016878532.1:p.Ile371Met
XR_932805.1:n.2061A>G