Canonical Allele Identifier: CA7910338

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13932186A>G , CM000678.2:g.13932186A>G	GRCh38
NC_000016.9:g.14026043A>G , CM000678.1:g.14026043A>G	GRCh37
NC_000016.8:g.13933544A>G	NCBI36
NG_011442.1:g.17030A>G , LRG_463:g.17030A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.1003A>G MANE Select	NP_005227.1:p.Met335Val
ENST00000311895.8:c.1003A>G MANE Select	ENSP00000310520.7:p.Met335Val
NM_005236.2:c.1003A>G , LRG_463t1:c.1003A>G	NP_005227.1:p.Met335Val
ENST00000311895.7:c.1003A>G	ENSP00000310520.7:p.Met335Val
ENST00000389138.7:n.161A>G
ENST00000574194.1:c.530A>G
ENST00000575156.5:c.1003A>G	ENSP00000459933.1:p.Met335Val
ENST00000682552.1:n.991A>G
ENST00000682568.1:n.1081A>G
ENST00000682617.1:c.1141A>G	ENSP00000507912.1:p.Met381Val
ENST00000682826.1:c.*317A>G	ENSP00000507274.1:n.*317A>G
ENST00000682909.1:n.3043A>G
ENST00000683277.1:n.2648A>G
ENST00000683407.1:n.1011A>G
ENST00000683962.1:c.*697A>G	ENSP00000506854.1:n.*697A>G
XM_011522424.1:c.1141A>G	XP_011520726.1:p.Met381Val
XM_011522424.3:c.1141A>G	XP_011520726.1:p.Met381Val
XM_011522425.1:c.460A>G	XP_011520727.1:p.Met154Val
XM_011522426.1:c.214A>G	XP_011520728.1:p.Met72Val
XM_011522427.1:c.-467A>G	XP_011520729.1:n.-467A>G
XM_017023043.2:c.214A>G	XP_016878532.1:p.Met72Val
XR_932805.1:n.1162A>G