Canonical Allele Identifier: CA7910293

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13930773C>T , CM000678.2:g.13930773C>T	GRCh38
NC_000016.9:g.14024630C>T , CM000678.1:g.14024630C>T	GRCh37
NC_000016.8:g.13932131C>T	NCBI36
NG_011442.1:g.15617C>T , LRG_463:g.15617C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.856C>T MANE Select	NP_005227.1:p.Gln286Ter
ENST00000311895.8:c.856C>T MANE Select	ENSP00000310520.7:p.Gln286Ter
NM_005236.2:c.856C>T , LRG_463t1:c.856C>T	NP_005227.1:p.Gln286Ter
ENST00000311895.7:c.856C>T	ENSP00000310520.7:p.Gln286Ter
ENST00000574194.1:c.383C>T
ENST00000574781.1:n.533C>T
ENST00000575156.5:c.856C>T	ENSP00000459933.1:p.Gln286Ter
ENST00000682552.1:n.844C>T
ENST00000682568.1:n.934C>T
ENST00000682617.1:c.994C>T	ENSP00000507912.1:p.Gln332Ter
ENST00000682826.1:c.*170C>T	ENSP00000507274.1:n.*170C>T
ENST00000682909.1:n.2896C>T
ENST00000683277.1:n.2501C>T
ENST00000683407.1:n.864C>T
ENST00000683962.1:c.*550C>T	ENSP00000506854.1:n.*550C>T
XM_011522424.1:c.994C>T	XP_011520726.1:p.Gln332Ter
XM_011522424.3:c.994C>T	XP_011520726.1:p.Gln332Ter
XM_011522425.1:c.313C>T	XP_011520727.1:p.Gln105Ter
XM_011522426.1:c.67C>T	XP_011520728.1:p.Gln23Ter
XM_017023043.2:c.67C>T	XP_016878532.1:p.Gln23Ter
XR_932805.1:n.1015C>T